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Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 3, pp. 292 - 301
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2015, Volume 23, pp. 292 - 301
Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in... 
Journal Article
Human molecular genetics, ISSN 0964-6906, 2007, Volume 16, Issue 1, pp. 83 - 91
Journal Article
Journal of medical genetics, ISSN 0022-2593, 2011, Volume 48, Issue 6, pp. 417 - 421
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2011, Volume 48, Issue 6, pp. 417 - 421
Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin.... 
Journal Article
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