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August 2024
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ISSN 1661-8769
EISSN 1661-8777
In this Issue
Molecular Syndromology 2024, Vol. 15, No. 4
Original Article
Delineating the Disease Boundaries: Homozygous CDC14A Variants Underlying Nonsyndromic Hearing Loss and Hearing Impairment Infertile Male Syndrome
Subject Area:
Genetics
Zamrud Zehri; Hammal Khan; Sohail Ahmed; Muhammad Javed Khan; Nisar Ahmed Shahwani; Shoaib Nawaz; Muhammad Umair
Mol Syndromol (2024) 15 (4): 269–274.
https://doi.org/10.1159/000536016
Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with GSX2 and PCDH12 Variants
Subject Area:
Genetics
Gizem Ürel-Demir; Burak Başer; Rahşan Göçmen; Pelin Özlem Şimşek-Kiper; Gülen Eda Utine; Göknur Haliloğlu
Mol Syndromol (2024) 15 (4): 275–283.
https://doi.org/10.1159/000537831
Novel Insights from Clinical Practice
Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease
Subject Area:
Genetics
Sinem Yalcintepe; Tuba Maras; Ilke Kizilyar; Hazal Sezginer Guler; Drenushe Zhuri; Engin Atli; Yasemin Ozen; Hakan Gurkan
Mol Syndromol (2024) 15 (4): 284–288.
https://doi.org/10.1159/000536386
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 289–296.
https://doi.org/10.1159/000536434
Two Sibling Cases of Spastic Paraplegia-45 with a Novel Pathogenic Variant in NT5C2 Gene: Concomitant RYR1 Gene in One Sibling
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 297–302.
https://doi.org/10.1159/000536183
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?
Subject Area:
Genetics
Çiğdem Seher Kasapkara; Oya Kıreker Köylü; Aysenur Engin Erdal; Burak Yürek; Nesrin Ceylan; Serdar Ceylaner
Mol Syndromol (2024) 15 (4): 303–310.
https://doi.org/10.1159/000536295
COL12A1 Gene Variant and a Review of the Literature: A Case Report of Ullrich Congenital Muscular Dystrophy
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 311–316.
https://doi.org/10.1159/000536344
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
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 317–323.
https://doi.org/10.1159/000536343
A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 324–327.
https://doi.org/10.1159/000536420
A Case of Lateral Meningocele Syndrome without Lateral Meningoceles
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 328–332.
https://doi.org/10.1159/000536632
Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 333–338.
https://doi.org/10.1159/000536676
Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome
Subject Area:
Genetics
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) 15 (4): 339–346.
https://doi.org/10.1159/000536574
A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features
Subject Area:
Genetics
Mol Syndromol (2024) 15 (4): 347–354.
https://doi.org/10.1159/000537952
