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Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.
Two cases, a boy and a girl, with the 11q-(Jacobsen) syndrome are reported. Findings common to both and typical for this chromosome aberration include a narrow protruding forehead, hypertelorism, non-horizontal position of the eyes, ptosis, strabismus, broad root, and short upturned tip of thenose,...
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| Publicat a: | J Med Genet |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
1977
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013641/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/604495/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.14.6.438 |
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