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
Author:
Affiliation:
1. Indiana University School of Medicine; Indianapolis Indiana
2. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University; Baltimore Maryland
3. Greenwood Genetic Center; Greenwood; South Carolina
Funder
National Institute of Neurological Disorders and Stroke
South Carolina Department of Disabilities and Special Needs
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37567/fullpdf
Reference27 articles.
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2. Terminal osseous dysplasia and pigmentary defects: Clinical characterization of a novel male lethal X-linked syndrome;Bacino;Am J Med Genet,2000
3. Skeletal dysplasias due to filamin A mutations result from a gain-of function mechanism distinct from allelic neurological disorders;Clark;Hum Mol Genet,2009
4. The oto-palato-digital syndrome: A new symptom complex consisting of deafness, dwarfism, cleft palate, characteristic facies and a generalized bone dysplasia;Dudding;Am J Dis Child,1967
5. The oto-palato-digital syndrome, proposed type II;Fitch;Am J Med Genet,1983
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