Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair

Pathogenic variants in the RASopathy-causing SHOC2 gene have been suggested to cause Noonan syndrome-like with loose anagen hair (NS/LAH). This condition is characterized by facial features resembling Noonan syndrome (NS), short stature, growth hormone deficiency (GHD), cognitive deficits, cardiac d...

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Detalles Bibliográficos
Autores principales: Wang, Qingming, Cheng, Shuangxi, Fu, Youqing, Yuan, Haiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792188/
https://www.ncbi.nlm.nih.gov/pubmed/36579329
http://dx.doi.org/10.3389/fgene.2022.1040124

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792188/
https://www.ncbi.nlm.nih.gov/pubmed/36579329
http://dx.doi.org/10.3389/fgene.2022.1040124

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