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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
Lah, Melissa, Niranjan, Tejasvi, Srikanth, Sujata, Holloway, Lynda, Schwartz, Charles E., Wang, Tao, Weaver, David D.Volume:
170
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37567
Date:
April, 2016
File:
PDF, 1.12 MB
english, 2016