Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome

Mowat-Wilson syndrome (MOWS) is a congenital disease caused by de novo heterozygous loss of function mutations or deletions of the ZEB2 gene. MOWS patients show multiple anomalies including intellectual disability, a distinctive facial appearance, microcephaly, congenital heart defects and Hirschspr...

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Detalles Bibliográficos
Autores principales: Teraishi, Mika, Takaishi, Mikiro, Nakajima, Kimiko, Ikeda, Mitsunori, Higashi, Yujiro, Shimoda, Shinji, Asada, Yoshinobu, Hijikata, Atsushi, Ohara, Osamu, Hiraki, Yoko, Mizuno, Seiji, Fukada, Toshiyuki, Furukawa, Takahisa, Wakamatsu, Nobuaki, Sano, Shigetoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5396187/
https://www.ncbi.nlm.nih.gov/pubmed/28422173
http://dx.doi.org/10.1038/srep46565

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