A new recessive syndrome of unusual facies and multiple structural abnormalities.

Two sibs with a similar pattern of dysmorphic facial features and multiple structural abnormalities are reported. Both had a normal karyotype. The parents are first cousins and neither shows any stigmata of the disorder. In view of the consanguinity and pattern of malformations, autosomal recessive...

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Bibliographic Details
Main Authors: Thakker, Y, Donnai, D
Format: Artigo
Language:Inglês
Published: 1991
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015797/
https://ncbi.nlm.nih.gov/pubmed/1956065
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