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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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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: Dean, J C, Simpson, S, Couzin, D A, Stephen, G S
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 1991
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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