Article
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
American journal of medical genetics. Part A - 1 Jul 2023
Thomas-Wilson Amanda, Schacht John P, Chitayat David, Blaser Susan, Santos Francis Jeshira Reynoso, Glaser Kimberly, Caffo Alesky, Wentzensen Ingrid M, Henderson Lindsay B, Zhang Futao, Zhu Ying, Di Corleto Ellen, da Silva Costa Fabricio, Vink Rebecca, Alkhunaizi Ebba, Russell Laura, Buckley Michael F, Roscioli Tony, Pereira Elaine Maria, Ganapathi Mythily
Abstract excerpt
Autosomal recessive microcephaly and chorioretinopathy-1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin-Gamma Complex Associated Protein 6 (TUBGCP6, MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.