A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease

Waardenburg syndrome (WS) is a group of genetic disorders associated with varying components of sensorineural hearing loss and abnormal pigmentation of the hair, skin and eyes. There exist four different WS subtypes, each defined by the absence or presence of additional features. One of the genes as...

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Publicado no:Am J Med Genet A
Main Authors: Burke, Elizabeth A., Reichard, Kyle E., Wolfe, Lynne A., Brooks, Brian P., DiGiovanna, John J., Hadley, Donald W., Lehky, Tanya J., Gropman, Andrea L., Tifft, Cynthia J., Gahl, William A., Toro, Camilo, Adams, David
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7167353/
https://ncbi.nlm.nih.gov/pubmed/32150337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61542
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