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Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones: a New Variant of Waardenburg Syndrome?

The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and...

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Detalhes bibliográficos
Main Authors: Gad, Alona, Laurino, Mercy, Maravilla, Kenneth R., Matsushita, Mark, Raskind, Wendy H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2533638/
https://ncbi.nlm.nih.gov/pubmed/18553554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.32402
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