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A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review

ABSTRACT Objective Mammalian Diaphanous‐Related Formin (mDia1), which is encoded by the DIAPH1 gene, serves as essential for the regulation of cell morphology and cytoskeletal organization. The role of DIAPH1 in brain development has been extensively established. This study aims to evaluate the clin...

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Principais autores: Emran Esmaeilzadeh, Sajjad Biglari, Meysam Mosallaei, Hamid Reza Khorram Khorshid, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2024-11-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
DIAPH1
exome sequencing
microcephaly
SCBMS
Online adgang:https://doi.org/10.1002/mgg3.70031
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