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Pendred Syndrome: study of three families

Although the textbook view of the Pendred syndrome is that of an autosomal recessive condition characterised by deafness and goitre, it is increasingly clear that not all patients present this classical clinical description. Malform-ations of the inner ear, specifically, enlargement of the vestibula...

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Bibliografische gegevens
Hoofdauteurs: Bigozzi, M, Melchionda, S, Casano, R, Palladino, T, Gitti, G
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Pacini Editore SpA 2005
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2639885/
https://ncbi.nlm.nih.gov/pubmed/16482981
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