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

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

ObjectiveTo 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.MethodsAfter obtaining informed consent, we collected the patient's medical histor...

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Bibliographic Details
Main Authors: Xuemei He, Xiuli Ma, Jing Wang, Zhuo Zou, Haoyu Huang, Jian Ren, Chunming Liu, Nan Zheng, Jing Ma, Yun Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-09-01
Series:Frontiers in Behavioral Neuroscience
Subjects:
PPP1CB
Noonan syndrome with loose anagen hair-2
developmental delay
next-novel mutation of the PPP1CB gene 2 generation sequencing
DNA mutation analysis
Online Access:https://www.frontiersin.org/articles/10.3389/fnbeh.2022.987259/full

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https://www.frontiersin.org/articles/10.3389/fnbeh.2022.987259/full

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