De novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndrome

2024-11-0920181018-4813N/AN/Ahttps://hdl.handle.net/20.500.14288/10503N/ABiochemistryMolecular biologyGeneticsHeredityDe novo gain-of-function mutations in the epigenetic regulator SMCHD1 cause Bosma arhinia microphthalmia syndromeMeeting Abstract1476-5438489312600007Q14466