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‐verb...

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Detalles Bibliográficos
Autores principales: Noda, Yusuke, Kido, Jun, Misumi, Yohei, Sugawara, Keishin, Ohori, Sachiko, Fujita, Atsushi, Matsumoto, Naomichi, Ueda, Mitsuharu, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10483498/
https://www.ncbi.nlm.nih.gov/pubmed/37692153
http://dx.doi.org/10.1002/ccr3.7779

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