COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
Dupont C, Baumann C, Le Du N, Schaefer E, Guimiot F, Boutaud L, Capri Y, Spaggiari E, Aboura A, Benzacken B, Tabet AC.
Dupont C, et al. Among authors: spaggiari e.
Am J Med Genet A. 2013 Oct;161A(10):2663-5. doi: 10.1002/ajmg.a.36081. Epub 2013 Aug 5.
Am J Med Genet A. 2013.
PMID: 23918474
No abstract available.