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Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome.

A blind study was designed to test the hypothesis that some persons with a relatively rare cardiac malformation, pulmonary atresia with ventriculoseptal defect (PA/VSD), have a recognisable phenotype. Fourteen patients with cyanotic congenital heart lesions were examined by dysmorphologists blinded...

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Dettagli Bibliografici
Autori principali: Seaver, L H, Pierpont, J W, Erickson, R P, Donnerstein, R L, Cassidy, S B
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016653/
https://ncbi.nlm.nih.gov/pubmed/7853364
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