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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

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