Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly t...

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Bibliografski detalji
Glavni autori: Digilio, M C, Marino, B, Giannotti, A, Dallapiccola, B
Format: Artigo
Jezik:Inglês
Izdano: 1997
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051122/
https://ncbi.nlm.nih.gov/pubmed/9391888
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