Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly

作者:Suranyi Andrea*; Maroti Zoltan; Talosi Gyula; Kalmar Tibor; Kaiser Laszlo; Bereczki Csaba; Pal Attila; Kereszturi Attila
来源:Clinical Dysmorphology, 2016, 25(3): 98-100.
DOI:10.1097/MCD.0000000000000120