Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.
AUTOR(ES)
Serotkin, A
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015509Documentos Relacionados
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