Article
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.
Human molecular genetics - 15 Jan 2018
Hsu Jacob S J, So Manting, Tang Clara S M, Karim Anwarul, Porsch Robert M, Wong Carol, Yu Michelle, Yeung Fanny, Xia Huimin, Zhang Ruizhong, Cherny Stacey S, Chung Patrick H Y, Wong Kenneth K Y, Sham Pak C, Ngo Ngoc Diem, Li Miaoxin, Tam Paul K H, Lui Vincent C H, Garcia-Barcelo Maria-Mercè
Abstract excerpt
The cloaca is an embryonic cavity that is divided into the urogenital sinus and rectum upon differentiation of the cloacal epithelium triggered by tissue-specific transcription factors including CDX2. Defective differentiation leads to persistent cloaca in humans (PC), a phenotype recapitulated in Cdx2 mutant mice. PC is linked to hypo/hyper-vitaminosis A. Although no gene has ever been identified, there is a...
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