Microcephaly and chorioretinopathy associated with TUBGCP4: a case report and a review of the literature.

Claudia Yahalom,Russell L Woods,James D Akula,Wen-Hann Tan,Anne Fulton

Ophthalmic genetics（2023）

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摘要

TUBCGP4-related microcephaly and chorioretinopathy, is a rare autosomal recessive neuro-ophthalmic disorder. Clinical characteristics in our proband have remained stable for two decades. The pathophysiology of this syndrome is not yet fully understood.

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关键词

MCCRP3,TUBCGP4,chorioretinopathy,microcephaly,microphthalmia

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