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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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2019-01-01
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| Col·lecció: | Frontiers in Pediatrics |
| Matèries: | |
| Accés en línia: | https://www.frontiersin.org/article/10.3389/fped.2018.00430/full |
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