A novel variant in the 3′ UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report

Abstract Background Pitt–Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from variants of TCF4 gene. PTHS follows an autosomal dominant inheritance pattern and the underlying pathological mechanisms of this disease are still unclear. Methods Whole-genome sequencing (WGS) w...

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Autori principali:	Tingting Zhao, Fan Yang, Bingbing Zhang, Yongyong Ren, Jiuzhou Yuan, Yu Wang, Hui Lu, Guangjun Yu, Jincai Feng
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2024-10-01
Serie:	Orphanet Journal of Rare Diseases
Soggetti:	Pitt-Hopkins syndrome TCF4 Clinically diagnosed Molecularly diagnosed Whole-genome sequencing
Accesso online:	https://doi.org/10.1186/s13023-024-03383-8
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