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Trisomy 13 and Rubinstein-Taybi syndrome.
Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies...
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| Gepubliceerd in: | J Med Genet |
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| Hoofdauteurs: | , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMJ Publishing Group
1975
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013239/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1121015/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.12.1.104 |
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