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The Nagar syndrome (acrofacial dysostosis): evidence for autosomal dominant inheritance.

Author(s): R Lowry

Publication date: 1976-12-31

Journal: Birth defects original article series

Keywords: Child, Female, Genes, Dominant, Hand Deformities, Congenital, Hearing Disorders, etiology, Humans, Intelligence, Mandibulofacial Dysostosis, complications, genetics, Mutation, Pedigree

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Abstract

A 10-year-old girl with the Nagar acrofacial dysostosis syndrome and normal intelligence is presented. Severe conductive hearing loss remains the major handicap. It is suggested that her syndrome is due to a dominant gene mutation.

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PubMed ID:: 890111

ScienceOpen disciplines: Chemistry

Keywords: Child,Female,Genes, Dominant,Hand Deformities, Congenital,Hearing Disorders,etiology,Humans,Intelligence,Mandibulofacial Dysostosis,complications,genetics,Mutation,Pedigree

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ScienceOpen disciplines: Chemistry

Keywords: Child, Female, Genes, Dominant, Hand Deformities, Congenital, Hearing Disorders, etiology, Humans, Intelligence, Mandibulofacial Dysostosis, complications, genetics, Mutation, Pedigree

The Nagar syndrome (acrofacial dysostosis): evidence for autosomal dominant inheritance.

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