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[Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants].

Zhonghua yi xue za zhi - 19 Nov 2024

Yan L L, Lin L Y, Hu Z J, Zhang Y X, Han C X, Liu Y W, Li H B

Abstract excerpt

The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children's Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q1,...

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Identifiers

PMID: 39533689
DOI: 10.3760/cma.j.cn112137-20240725-01715

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