CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.
European journal of human genetics : EJHG | 2018-02-01 | PMID 29255276
Legendre Marine, Rodriguez-Ballesteros Montserrat, Rossi Massimiliano and 23 more
Genes: CHD7
