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Interstitial deletion of chromosome 13: prognosis and adult phenotype.
A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder in...
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| Publicat a: | J Med Genet |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
1991
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016982/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1920369/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.8.533 |
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