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Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.

We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van Creveld syndrome.

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Detalhes bibliográficos
Main Authors: Serotkin, A, Stamberg, J, Waber, L
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015509/
https://ncbi.nlm.nih.gov/pubmed/3367352
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