COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
作者信息
Dupont Céline, Baumann Clarisse, Le Du Nathalie, Schaefer Elise, Guimiot Fabien, Boutaud Lucile, Capri Yline, Spaggiari Emmanuel, Aboura Azzedine, Benzacken Brigitte, Tabet Anne-Claude
机构信息
AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.
出版信息
Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5.
PMID:23918474
Abstract
摘要
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引用本文的文献
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Phenotypic characterization of patients with early-onset high myopia due to mutations in or : Why not Stickler syndrome?因 或 基因突变导致的早发性高度近视患者的表型特征：为何不是斯蒂克勒综合征？
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