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Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spon...

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Detalhes bibliográficos
Publicado no:Case Rep Pediatr
Main Authors: Goyal, Manisha, Kapoor, Seema, Ikegawa, Shiro, Nishimura, Gen
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5149639/
https://ncbi.nlm.nih.gov/pubmed/28018693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/3198597
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