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Case Reports May 20 2024

A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy

Emine Caliskan; Safiye Gunes Sager; Akif Ayaz; Kerem Teralı; Hediye Pinar Gunbey

Mol Syndromol (2024) https://doi.org/10.1159/000538900

View articletitled, A Novel NDUFV2 Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating Leukoencephalopathy

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Case Reports May 20 2024

De novoAHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

Miriam Bertrand; Gulalai Shah; Brent S. Pedersen; Alexander Schulz; Anja Weise; Thomas Liehr; Peter Huppke; Stephanie DiTroia; Aaron R. Quinlan; Tobias B. Haack; Ralf A. Husain

Mol Syndromol (2024) https://doi.org/10.1159/000538918

View articletitled, De novoAHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome

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Case Reports May 10 2024

Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant

Sibğatullah Ali Orak; Dilek Gün Bilgiç; Çisil Çerçi Kubur; Aslı Kübra Atasever; Celil Yılmaz; Muzaffer Polat

Mol Syndromol (2024) https://doi.org/10.1159/000538741

View articletitled, Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant

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Research Articles April 30 2024

Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

Burhanettin Yalçınkaya; Kübra Adanur Sağlam; Kerem Terali; Emine Tekin; Hava Taslak; Ayberk Türkyılmaz

Mol Syndromol (2024) https://doi.org/10.1159/000538676

View articletitled, Biallelic Deletion of PEX26 Exon 4 in a Boy with Phenotypic Features of both Zellweger Syndrome and Infantile Refsum Disease

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Research Articles April 24 2024

Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.2364G>A) and LIF Polymorphism (c.1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract

Tugce Oztepe; Feride Iffet Sahin; Aysun Caltik Yilmaz; Esra Baskin; Mehmet Haberal; Yunus Kasim Terzi

Mol Syndromol (2024) https://doi.org/10.1159/000538653

View articletitled, Determination of the Frequency of BCL-2 Polymorphisms (c.-717C>A and c.*2364G>A) and LIF Polymorphism (c.*1414T>G) in Patients with Congenital Anomalies of the Kidney and Urinary Tract

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Case Reports April 22 2024

Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia

Mohammed Al-Hatou; Abeer Sabry Safan; Mohamed A. Atta; Maria Siddiqi

Mol Syndromol (2024) https://doi.org/10.1159/000538225

View articletitled, Clinical and Biochemical Analysis of Glutamate-Cysteine Ligase Deficiency Presented with Late-Onset Spinocerebellar Ataxia and Hemolytic Anemia

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Case Reports April 16 2024

A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum

Tuğba Daşar; Abdulkerim Kolkıran; Abdullah Sezer; Ercan Bal; Esra Kılıç

Mol Syndromol (2024) https://doi.org/10.1159/000537869

View articletitled, A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum

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Case Reports April 12 2024

A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes

Semih Sandal; Gulsum Kayhan; Dilek Kahvecioglu; Emine Vezir; Ayse Kilic; Aslihan Köse; Melda Tas Ersun; Turan Derme; Yusuf Bahap; Selim Dereci; Samil Hizli

Mol Syndromol (2024) https://doi.org/10.1159/000538395

View articletitled, A 37-kb Deletion in Region 16p13.3 in an Infant with Osteopetrosis and Congenital Diarrhea Including the CLCN7 and PERCC1 Genes

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Research Articles April 8 2024

Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey

Hatice Kocak Eker; Ozgur Balasar

Mol Syndromol (2024) https://doi.org/10.1159/000538300

View articletitled, Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey

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Case Reports April 2 2024

Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report

Nada Amllal; Jaber Lyahyai; Siham Chafai Elalaoui; Youssef El Kadiri; Abdelaziz Sefiani

Mol Syndromol (2024) https://doi.org/10.1159/000538115

View articletitled, Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report

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Case Reports March 27 2024

Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome

Ruy Pires de Oliveira-Sobrinho; Rare Genomes Project Consortium; Társis Paiva Vieira; Carlos Eduardo Steiner

Mol Syndromol (2024) https://doi.org/10.1159/000538012

View articletitled, Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome

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Case Reports March 27 2024

EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable

Pankaj Prasun; Kamakhya Patra

Mol Syndromol (2024) https://doi.org/10.1159/000538059

View articletitled, EEF2-Related Neurodevelopmental Disorder Is Clinically Recognizable

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Research Articles March 27 2024

A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Tufail Akbar Mughal; Muhammad Asim; Syed Haseeb ul Hassan Gillani; Nimra Obaid Chughtai; Syeda Afifa Batool; Amir Hussain; Kulsoom Shujaat; Syed Zohaib Tayyab Gilani

Mol Syndromol (2024) https://doi.org/10.1159/000538039

View articletitled, A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

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Case Reports March 27 2024

Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome

Nezaket Ezgi Güven; Hacer Uçmak; Çiğdem İlter Uçar; Merve Havan; Miraç Yıldırım; Serap Teber; Tanıl Kendirli

Mol Syndromol (2024) https://doi.org/10.1159/000538015

View articletitled, Atlantoaxial Instability due to Os Odontoideum in a Child with Christianson Syndrome

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Case Reports March 22 2024

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features

Merve Soğukpınar; Beren Karaosmanoğlu; Gülen Eda Utine; Koray Boduroğlu; Pelin Özlem Şimşek-Kiper

Mol Syndromol (2024) https://doi.org/10.1159/000537952

View articletitled, A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features

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Case Reports March 22 2024

Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome

Ludovico Graziani; Miriam Lucia Carriero; Flavio Pozzi; Chiara Minotti; Aikaterini Andreadi; Alfonso Bellia; Rosario Ruta; Mario Bengala; Antonio Novelli; Davide Lauro; Giuseppe Novelli

Mol Syndromol (2024) https://doi.org/10.1159/000536574

View articletitled, Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome

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Research Articles March 18 2024

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants

Gizem Ürel-Demir; Burak Başer; Rahşan Göçmen; Pelin Özlem Şimşek-Kiper; Gülen Eda Utine; Göknur Haliloğlu

Mol Syndromol (2024) https://doi.org/10.1159/000537831

View articletitled, Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants

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Case Reports March 12 2024

A Case of Lateral Meningocele Syndrome without Lateral Meningoceles

Derek Rubadeux; Joshua W. Owens; Amelle Shillington

Mol Syndromol (2024) https://doi.org/10.1159/000536632

View articletitled, A Case of Lateral Meningocele Syndrome without Lateral Meningoceles

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Case Reports March 4 2024

Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature

Halil Tuna Akar; Esra Sayar; Özlem Sarıtaş Nakip; Esra Sönmez; Mehmet Burak Özkan; Asburçe Olgaç

Mol Syndromol (2024) https://doi.org/10.1159/000536676

View articletitled, Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature

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Case Reports February 26 2024

COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy

Rojan İpek; Büşra Eser Çavdartepe; Sevcan Tuğ Bozdoğan; Uluç Yiş

Mol Syndromol (2024) https://doi.org/10.1159/000536344

View articletitled, COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy

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Case Reports February 23 2024

Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

Çiğdem Seher Kasapkara; Oya Kıreker Köylü; Aysenur Engin Erdal; Burak Yürek; Nesrin Ceylan; Serdar Ceylaner

Mol Syndromol (2024) https://doi.org/10.1159/000536295

View articletitled, Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?

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Case Reports February 23 2024

Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling

Rojan İpek; Mustafa Kömür; Meltem Çobanoğulları Direk; Sevcan Tuğ Bozdoğan; Çetin Okuyaz

Mol Syndromol (2024) https://doi.org/10.1159/000536183

View articletitled, Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling

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Case Reports February 23 2024

A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?

Yusuf Bahap; Gulsum Kayhan

Mol Syndromol (2024) https://doi.org/10.1159/000536420

View articletitled, A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?

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Case Reports February 23 2024

Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient

Mustafa Yılmaz; Ogun Bebek; Ayberk Turkyilmaz

Mol Syndromol (2024) https://doi.org/10.1159/000536343

View articletitled, Smith-Lemli-Opitz Syndrome with Biallelic c.1295A>G (p.Tyr432Cys) Variant in the DHCR7 Gene in a 73-Year-Old Woman: Report of the Oldest Patient

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Case Reports February 16 2024

Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant

Hatice Koçak Eker; Tuğba Tekeli

Mol Syndromol (2024) https://doi.org/10.1159/000536434

View articletitled, Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant

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Case Reports February 16 2024

Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease

Sinem Yalcintepe; Tuba Maras; Ilke Kizilyar; Hazal Sezginer Guler; Drenushe Zhuri; Engin Atli; Yasemin Ozen; Hakan Gurkan

Mol Syndromol (2024) https://doi.org/10.1159/000536386

View articletitled, Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease

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Research Articles February 8 2024

Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome

Zamrud Zehri; Hammal Khan; Sohail Ahmed; Muhammad Javed Khan; Nisar Ahmed Shahwani; Shoaib Nawaz; Muhammad Umair

Mol Syndromol (2024) https://doi.org/10.1159/000536016

View articletitled, Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome

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Case Reports February 1 2024

Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene

Arzu Selamioğlu; Burcu Yeter Doğan; Mehmet Cihan Balcı; Tuğba Kalaycı; Meryem Karaca; Belkıs Ak; Aslı Durmuş; Hüseyin Kutay Körbeyli; Gülden Gökçay

Mol Syndromol (2024) https://doi.org/10.1159/000536069

View articletitled, Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene

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Case Reports January 31 2024

First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1

Yasemin Kendir-Demirkol; Burcu Yeter; Kanay Yararbaş

Mol Syndromol (2024) https://doi.org/10.1159/000536162

View articletitled, First Co-Occurrence of Griscelli Syndrome Type 2 and Neurofibromatosis Type 1

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Case Reports January 30 2024

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

Eyyup Uctepe; Nefise Kandemir; Firdevs Dinçsoy Bir; Asuman Nur Karhan; Sait Tumer; Emine Busra Ondes; Bahadır Konuskan; Ahmet Yesilyurt

Mol Syndromol (2024) https://doi.org/10.1159/000536072

View articletitled, A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

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Case Reports January 25 2024

A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature

Berfin Ayla Hasturk; Çisem Cinar; Tanyel Zubarioglu; Semra Tiryaki-Demir; Mehmet Serif Cansever; Ertugrul Kiykim; Aysel Kalaycı Yigin; Cengiz Yalcinkaya; Cigdem Aktuglu-Zeybek

Mol Syndromol (2024) https://doi.org/10.1159/000535534

View articletitled, A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature

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Case Reports January 24 2024

Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome

Hatice Yelda Yalçın; Tayfun Cinleti; Servet Yel; Mehmet Burak Mutlu

Mol Syndromol (2024) https://doi.org/10.1159/000535682

View articletitled, Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome

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Research Articles January 16 2024

Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series

Bilge Noyan; Nursel H. Elcioglu; Abdellah Tebani; Soumeya Bekri

Mol Syndromol (2024) https://doi.org/10.1159/000535888

View articletitled, Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series

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Research Articles January 16 2024

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families

Abdulkerim Kolkiran; Pelin Özlem Şimşek-Kiper; Göknur Topaloğlu Yasan; Beren Karaosmanoğlu; Ekim Taşkıran; Gülen Eda Utine; Hakan H. Tüz; Koray Boduroğlu

Mol Syndromol (2024) https://doi.org/10.1159/000535407

View articletitled, Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families

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Case Reports January 15 2024

Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion

Ruy Pires de Oliveira-Sobrinho; Luciana Mota Bispo; Julia Lôndero Heleno; Fernanda Rocha Rojas Ayala; Fabiano Reis; Társis Paiva Vieira; Carlos Eduardo Steiner

Mol Syndromol (2024) https://doi.org/10.1159/000535240

View articletitled, Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion

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Research Articles January 15 2024

Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia

Rıdvan Murat Öktem; Aslı İnci; Harun Bayrak; Fevzi Demir; Gürsel Biberoğlu; Murat Emrah Maviş; Gökçe Göksu Gürsu; Hazal Yılmaz; İlyas Okur; Fatih Suheyl Ezgü; Leyla Tümer

Mol Syndromol (2024) https://doi.org/10.1159/000535853

View articletitled, Pterin Profiling in Serum, Dried Blood Spot, and Urine Samples Using LC-MS/MS in Patients with Inherited Hyperphenylalaninemia

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Case Reports January 4 2024

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features

Akçahan Akalin; Karl-Heinz Grzeschik; Eda Utine; Koray Boduroğlu; Pelin Özlem Simsek-Kiper

Mol Syndromol (2024) https://doi.org/10.1159/000535681

View articletitled, A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features

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Case Reports January 4 2024

Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients

Kismet Ciki; Ceren Alavanda; Murat Kara

Mol Syndromol (2024) https://doi.org/10.1159/000535589

View articletitled, Novel Mutation in the HSD17B10 Gene Accompanied by Dysmorphic Findings in Female Patients

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Research Articles December 28 2023

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes

Muserref Basdemirci; Hatice Kocak Eker

Mol Syndromol (2023) https://doi.org/10.1159/000535590

View articletitled, Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes

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Corrections/Errata October 12 2023

Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

Mol Syndromol (2023) https://doi.org/10.1159/000534309

View articletitled, Erratum - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society

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