Article
TUBGCP4 - associated microcephaly and chorioretinopathy.
Ophthalmic genetics - 1 Apr 2020
Da Palma Mariana Matioli, Motta Fabiana Louise, Takitani Guilherme Eiichi Da Silva, Salles Mariana Vallim, Lima Luiz Henrique, Ferraz Sallum Juliana Maria
Abstract excerpt
Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma complex-associated protein 4 (TUBGCP4) gene.Materials and Methods This is a case report of a patient with a molecular diagnosis...
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