Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Key Clinical Message This case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*). The clinical symptoms included microcephaly, brachygnathia, central and peripheral hypotonia, and developmental delay (non‐verba...

Full description

Bibliographic Details
Main Authors: Yusuke Noda, Jun Kido, Yohei Misumi, Keishin Sugawara, Sachiko Ohori, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura
Format: Article
Language:English
Published: Wiley 2023-09-01
Series:Clinical Case Reports
Subjects:
c.175C>T
developmental delay
general medicine
genetics and genomics
hypotonia
non‐epilepsy
Online Access:https://doi.org/10.1002/ccr3.7779

Internet

https://doi.org/10.1002/ccr3.7779

Similar Items