Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
- Resource Type
- Article
- Authors
- Kharbanda, Mira; Pilz, Daniela T.; Tomkins, Susan; Chandler, Kate; Saggar, Anand; Fryer, Alan; McKay, Victoria; Louro, Pedro; Smith, Jill Clayton; Burn, John; Kini, Usha; De Burca, Anna; FitzPatrick, David R.; Kinning, Esther
- Source
- In European Journal of Medical Genetics February 2017 60(2):130-135
- Subject
- Language
- ISSN
- 1769-7212