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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Egile Nagusiak:	Emran Esmaeilzadeh, Sajjad Biglari, Meysam Mosallaei, Hamid Reza Khorram Khorshid, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Wiley 2024-11-01
Saila:	Molecular Genetics & Genomic Medicine
Gaiak:	DIAPH1 exome sequencing microcephaly SCBMS
Sarrera elektronikoa:	https://doi.org/10.1002/mgg3.70031
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