Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome

OBJECTIVE: To screen and analyze the genetic mutations in the PPP1CB gene in a patient with Noonan syndrome with loose anagen hair-2 (NSLH2) in Yunnan Province, China and explore the possible molecular pathogenesis. METHODS: After obtaining informed consent, we collected the patient's medical h...

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Detalles Bibliográficos
Autores principales: He, Xuemei, Ma, Xiuli, Wang, Jing, Zou, Zhuo, Huang, Haoyu, Ren, Jian, Liu, Chunming, Zheng, Nan, Ma, Jing, Liu, Yun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Behavioral Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9492974/
https://www.ncbi.nlm.nih.gov/pubmed/36160684
http://dx.doi.org/10.3389/fnbeh.2022.987259

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9492974/
https://www.ncbi.nlm.nih.gov/pubmed/36160684
http://dx.doi.org/10.3389/fnbeh.2022.987259

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