Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome

Stickler syndrome is an inherited connective tissue disorder that affects the eyes, cartilage and articular tissues. The phenotypes of Stickler syndrome include congenital high myopia, retinal detachment, premature joint degeneration, hearing impairment and craniofacial anomalies, such as cleft pala...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Hum Genome Var
Main Authors: Kondo, Hiroyuki, Matsushita, Itsuka, Nagata, Tatsuo, Hayashi, Takaaki, Kakinoki, Masashi, Uchio, Eiichi, Kondo, Mineo, Ohji, Masahito, Kusaka, Shunji
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2016
Assuntos:
Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4935762/
https://ncbi.nlm.nih.gov/pubmed/27408751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.18
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares