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Fatal gastrointestinal complications in Pitt-Hopkins syndrome

Koppen, IJN; Menke, LA; Westra, WM; Struik, F; Mesman, S; Van Wijk, MP; Huisman, SA

Koppen, IJN (通讯作者),locat Univ Amsterdam, Amsterdam UMC, Emma Childrens Hosp, Dept Pediat Gastroenterol & Nutr, Meibergdreef9, Amsterdam, Netherlands.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023; 191 (3): 855

Abstract

Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by mutations of the transcription factor 4 (Tcf4) gene. Individuals with PTH......

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