FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.
Ovaert, Caroline; Busa, Tiffany; Faure, Emilie; Missirian, Chantal; Philip, Nicole; Paoli, Florent; Milh, Mathieu; Macé, Loic; Zaffran, Stephane.
Am J Med Genet A
; 173(9): 2489-2493, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28657660
Congenital heart defects in molecularly proven Kabuki syndrome patients.
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