Article
Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.
Ophthalmic genetics - 1 Dec 2023
Yahalom Claudia, Woods Russell L, Akula James D, Tan Wen-Hann, Fulton Anne
Abstract excerpt
BACKGROUND: Microcephaly and chorioretinopathy (MCCRP) is a rare autosomal recessive (AR) disorder characterized by microcephaly, developmental delay, chorioretinopathy, and visual impairment. We characterized the long-term phenotype of an additional patient with MCCRP associated with TUBCGP4 pathogenic variants and analysed previously reported cases in the literature. MATERIALS AND METHODS: Analysis of clinical...
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