A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
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1. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA ) mutation;American Journal of Medical Genetics Part A;2016-01-24
2. Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R;American Journal of Medical Genetics Part A;2015-12-21
3. Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification;American Journal of Medical Genetics Part A;2015-03-19
4. Ocular pterygium-Digital keloid dysplasia;American Journal of Medical Genetics Part A;2014-08-14
5. Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?;American Journal of Medical Genetics Part A;2013-05-01
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