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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:Hum Genome Var
Päätekijät: Kondo, Hiroyuki, Matsushita, Itsuka, Nagata, Tatsuo, Hayashi, Takaaki, Kakinoki, Masashi, Uchio, Eiichi, Kondo, Mineo, Ohji, Masahito, Kusaka, Shunji
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2016
Aiheet:
Article
Linkit: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
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