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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| Main Authors: | , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2019-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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