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Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

BACKGROUND: Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, and molecular features o...

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Publicat a:BMC Med Genet
Autors principals: Sangsin, Apiruk, Srichomthong, Chalurmpon, Pongpanich, Monnat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2016
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5153895/
https://ncbi.nlm.nih.gov/pubmed/27955642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0357-4
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