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Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain of Jagged 1

In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patien...

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Detalhes bibliográficos
Main Authors: Le Caignec, C., Lefevre, M., Schott, J. J., Chaventre, A., Gayet, M., Calais, C., Moisan, J. P.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC384977/
https://ncbi.nlm.nih.gov/pubmed/12022040
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