Stickler syndrome is a group of collagenopathies characterized by ophthalmic, skeletal, and orofacial abnormalities, with the degree of symptoms varying among patients. Mutations in the COL2A1, COL11A1, and COL11...
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Medicine by Alexandros G.Sfakianakis,Anapafseos 5 Agios Nikolaos,Crete 72100,Greece,tel :00302841026182 & 00306932607174
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Παρασκευή 25 Αυγούστου 2017
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
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