Article
Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death.
Birth defects research - 1 Aug 2024
Huang Nan, Zhang Hegan, Huang Zhengping, Wu Xiaoxia, Zhang Na, Jiang Yuying, Chen Chunnuan, Zhuang Jianlong
Abstract excerpt
BACKGROUND: Causative mutations of PBX1 are associated with congenital abnormalities of the kidney and urinary tract (CAKUT), often accompanied by hearing loss, abnormal ear morphology, or developmental delay. The aim of the present investigation was to introduce a novel variant in the PBX1 gene identified in a Chinese family, leading to recurrent neonatal mortality. METHODS: A pregnant woman (gravida 5, para 0),...
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