Noonan's and DiGeorge syndromes with monosomy 22q11.

A boy with the dysmorphic features of Noonan's syndrome and pulmonary valve stenosis who had evidence of hypoparathyroidism and abnormal T lymphocyte numbers in the neonatal period is reported. He had a normal karyotype but molecular analysis revealed a submicroscopic deletion within chromosome...

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Main Authors: Wilson, D I, Britton, S B, McKeown, C, Kelly, D, Cross, I E, Strobel, S, Scambler, P J
Format: Artigo
Jezik:Inglês
Izdano: 1993
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1029231/
https://ncbi.nlm.nih.gov/pubmed/8481040
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