Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorph...
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| Udgivet i: | J Med Genet |
|---|---|
| Principais autores: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
1990
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017089/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2352265/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.5.339 |
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