Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations

Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be the underlying mec...

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Detalles Bibliográficos
Autores principales: Wang, Xue-Ping, Liu, Ya-Lan, Mei, Ling-Yun, He, Chu-Feng, Niu, Zhi-Jie, Sun, Jie, Zhao, Yu-lin, Feng, Yong, Zhang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915419/
https://www.ncbi.nlm.nih.gov/pubmed/29531335
http://dx.doi.org/10.1038/s10038-018-0425-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5915419/
https://www.ncbi.nlm.nih.gov/pubmed/29531335
http://dx.doi.org/10.1038/s10038-018-0425-z

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