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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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Wilson, D I, Burn, J, Scambler, P, Goodship, J
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1993
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016569/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8230162/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.10.852
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