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
Emran Esmaeilzadeh, Sajjad Biglari, Meysam Mosallaei, Hamid Reza Khorram Khorshid, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar · 2024
Read 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 by Emran Esmaeilzadeh, Sajjad Biglari, Meysam Mosallaei, Hamid Reza Khorram Khorshid, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11584415.txt.
Description
ObjectiveMammalian 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 clinical, neuroradiological, and genetic characteristics of patients with DIAPH1‐related disease and determine probable genotype–phenotype relationships.
Catalog record
| CREATOR | Emran Esmaeilzadeh, Sajjad Biglari, Meysam Mosallaei, Hamid Reza Khorram Khorshid, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 23 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |