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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Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet A
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2020
Gaiak:
Article
Sarrera elektronikoa: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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