Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review

Growth Concerns in Coffin–Lowry Syndrome: A Case Report and Literature Review

Mutation of RPS6KA3 can induce Coffin–Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature characteristic of short stature, facial dysmorphism, development retardation, hearing defect. The mutation of RPS6KA3 we detected by NGS analysis is c.2185 C > T. The sho...

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Bibliographic Details
Main Authors: Ying Lv, Liuyan Zhu, Jing Zheng, Dingwen Wu, Jie Shao
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-01-01
Series:Frontiers in Pediatrics
Subjects:
RSK2
Coffin–Lowry
growth retardation
pervasive development disorder
growth hormone
Online Access:https://www.frontiersin.org/article/10.3389/fped.2018.00430/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2018.00430/full

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