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Article

Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.

American journal of medical genetics. Part A - 1 Dec 2025

Gomes Adriana, Karamcheti Sanjana, Rodriguez Álvaro Martín, Niemi Anna-Kaisa, Bird Lynne M

Abstract excerpt

PPP1R12A-related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate anus without rectal fistula, and vaginal atresia. Brain imaging...

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PMID: 40770999
DOI: 10.1002/ajmg.a.64217

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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