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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Tingting Zhao, Fan Yang, Bingbing Zhang, Yongyong Ren, Jiuzhou Yuan, Yu Wang, Hui Lu, Guangjun Yu, Jincai Feng
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2024-10-01
Schriftenreihe:Orphanet Journal of Rare Diseases
Schlagworte:
Pitt-Hopkins syndrome
TCF4
Clinically diagnosed
Molecularly diagnosed
Whole-genome sequencing
Online-Zugang:https://doi.org/10.1186/s13023-024-03383-8
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