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Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Pubmed ID: 
24105366
Year: 
2013
Month: 
OCT
Citation: 
Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E, Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ. Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. European journal of human genetics : EJHG (2013) PubMed