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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Wilson, D I, Britton, S B, McKeown, C, Kelly, D, Cross, I E, Strobel, S, Scambler, P J
Format: Artigo
Idioma:Inglês
Publicat: 1993
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1029231/
https://ncbi.nlm.nih.gov/pubmed/8481040
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars