A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents —the first cases of gonadal mosaicism in CFC?

American Journal of Medical Genetics Part A, EarlyView.

Source: American Journal of Medical Genetics Part A - April 28, 2018 Category: Genetics & Stem Cells Authors: SarahGeoghegan , GrahamKing , JenniferHenchliffe , Simon C.Ramsden , Raymond J.Barry , Andrew J.Green , Susan M.O'Connell Source Type: research