Associated Papers
PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report.
Saul R et al.
Case Reports in Pediatrics, 2026
Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.
Gomes A et al.
American Journal of Medical Genetics. Part A, 2025
Functional analysis of a novel nonsense PPP1R12A variant in a Chinese family with infantile epilepsy.
Tong L et al.
Bmc Medical Genomics, 2024
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