Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea.

We report the case of a female infant diagnosed with GPS to a KAT6B gene mutation, which was identified using whole exome sequencing.
PMID: 30900427 [PubMed - in process]

Source: Yonsei Medical Journal - March 24, 2019 Category: Universities & Medical Training Authors: Kim BR, Han JH, Shin JE, Park MS, Park KI, Namgung R, Lee HJ, Lee JS, Eun HS Tags: Yonsei Med J Source Type: research