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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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Main Authors: | , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2008
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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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