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Pathogenic Variants in TUBGCP6 of Familial Microcephaly and Chorioretinopathy

Microcephaly and chorioretinopathy type 1 (MCCRP1) is an autosomal recessive syndrome characterized by severe microcephaly, facial dysmorphisms, chorioretinopathy, and developmental delays. This rare condition is caused by homozygous or compound heterozygous pathogenic variants in the Tubulin Gamma...

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Main Authors: Sultana MH Faradz, Peter Ivan Hadiprajitno, Rina Susanti Chen, Muhamad Rifqy Setyanto, Sefri Noventi Sofia, Pujo Widodo, Nicole de Leeuw, Alexander P.A. Stegmann, Bregje W van Bon
Format: Artigo
Language:Inglês
Published: Prince of Songkla University 2026-01-01
Series:Journal of Health Science and Medical Research (JHSMR)
Subjects:
autosomal recessive
chorioretinopathy
mccrp1
microcephaly
tubgcp6 gene
Online Access:https://www.jhsmr.org/index.php/jhsmr/article/view/1251
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