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DiGeorge syndrome: part of CATCH 22.

DiGeorge syndrome (DGS) comprises thymic hypoplasia, hypocalcaemia, outflow tract defects of the heart, and dysmorphic facies. It results in almost all cases from a deletion within chromosome 22q11. We report the clinical findings in 44 cases. We propose that DiGeorge syndrome should be seen as the...

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Detalhes bibliográficos
Main Authors: Wilson, D I, Burn, J, Scambler, P, Goodship, J
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016569/
https://ncbi.nlm.nih.gov/pubmed/8230162
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