Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt –Hopkins syndrome: a retrospective study

Pitt –Hopkins syndrome (PTHS) is a neurodevelopmental disorder that remains underdiagnosed and its clinical presentations and mutation profiles in a diverse population are yet to be evaluated. This retrospectiv...

Source: Orphanet Journal of Rare Diseases - February 8, 2024 Category: Internal Medicine Authors: Tingting Zhao, Shengnan Wu, Yiping Shen, Jing Leng, Georgi Z. Genchev, Hui Lu and Jincai Feng Tags: Research Source Type: research