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 short s...

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Detalles Bibliográficos
Autores principales: Lv, Ying, Zhu, Liuyan, Zheng, Jing, Wu, Dingwen, Shao, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357678/
https://www.ncbi.nlm.nih.gov/pubmed/30740391
http://dx.doi.org/10.3389/fped.2018.00430

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357678/
https://www.ncbi.nlm.nih.gov/pubmed/30740391
http://dx.doi.org/10.3389/fped.2018.00430

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