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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from 76 patients referred with a diagnosis of either DGS or VCFS to determine the prevalence of 22q11 deletions in these disorders....

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Detalhes bibliográficos
Main Authors: Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016560/
https://ncbi.nlm.nih.gov/pubmed/8230155
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