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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Dean, J C, Simpson, S, Couzin, D A, Stephen, G S
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1991
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016982/
https://ncbi.nlm.nih.gov/pubmed/1920369
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