Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.

Huang, Wendi; Yang, Ying; Che, Fengyu; Wu, Haibin; Ma, Ying; Zhao, Yujuan

Huang, Wendi; Yang, Ying; Che, Fengyu; Wu, Haibin; Ma, Ying; Zhao, Yujuan.

Afiliación

Huang W; Department of Neonatology, Xi'an Children's Hospital, No. 69 Xijuyuan Lane, Lianhu District, Xi'an City, 710003, Shaanxi, China.
Yang Y; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Che F; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Wu H; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Ma Y; Department of Neonatology, Xi'an Children's Hospital, No. 69 Xijuyuan Lane, Lianhu District, Xi'an City, 710003, Shaanxi, China.
Zhao Y; Department of Neonatology, Xi'an Children's Hospital, No. 69 Xijuyuan Lane, Lianhu District, Xi'an City, 710003, Shaanxi, China. zhaoyujuan69@163.com.

Neurogenetics ; 25(1): 27-31, 2024 Jan.

Article en En | MEDLINE | ID: mdl-37930470

Asunto(s)

Artrogriposis; Fisura del Paladar; Pie Equinovaro; Deformidades Congénitas de la Mano; Hipotonía Muscular; Trastornos del Neurodesarrollo; Recién Nacido; Humanos; Hipotonía Muscular/genética; Estudios Retrospectivos; Transmisión Sináptica/genética; Trastornos del Neurodesarrollo/genética; Sinaptotagmina I

Palabras clave

Genetic disorder; Neurodevelopment; SYT1; Synaptotagmin

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Artrogriposis / Deformidades Congénitas de la Mano / Pie Equinovaro / Fisura del Paladar / Trastornos del Neurodesarrollo / Hipotonía Muscular Límite: Humans / Newborn Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2024 Tipo del documento: Article País de afiliación: China

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