Ophthalmic and molecular genetic findings in Kniest dysplasia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://www.nature.com/articles/eye2014334.pdf
Reference41 articles.
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3. Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU . Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet 1993; 3: 323–326.
4. Kannu P, Bateman J, Savarirayan R . Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health 2012; 48: E38–E43.
5. Kniest W . [Differential diagnosis between dysostosis enchondralis and chondrodystrophy]. Z Kinderheilkd 1952; 70: 633–640.
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