Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

Abstract Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) varia...

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Detalhes bibliográficos

Principais autores:	Jing Zheng, Meiqun Gu, Shasha Xiao, Chongzhen Li, Hongying Mi, Xiaoyan Xu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-05-01
Colecção:	BMC Pediatrics
Assuntos:	Schinzel-Giedion syndrome SETBP1 Neonate Hydronephrosis
Acesso em linha:	https://doi.org/10.1186/s12887-024-04779-y
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