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Radial aplasia and chromosome 22q11 deletion.

We report on a neonate with deletion 22q11 (del22q11) presenting with facial dysmorphism, ocular coloboma, congenital heart defect, urogenital malformations, and unilateral radial aplasia. This malformation complex includes features frequently occurring in velocardiofacial syndrome as well as findin...

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Detalles Bibliográficos
Main Authors: Digilio, M C, Giannotti, A, Marino, B, Guadagni, A M, Orzalesi, M, Dallapiccola, B
Formato: Artigo
Idioma:Inglês
Publicado: 1997
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051127/
https://ncbi.nlm.nih.gov/pubmed/9391893
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