TY  - GEN
AU  - Kharbanda,Mira
AU  - Pilz,Daniela T
AU  - Tomkins,Susan
AU  - Chandler,Kate
AU  - Saggar,Anand
AU  - Fryer,Alan
AU  - McKay,Victoria
AU  - Louro,Pedro
AU  - Smith,Jill Clayton
AU  - Burn,John
AU  - Kini,Usha
AU  - De Burca,Anna
AU  - FitzPatrick,David R
AU  - Kinning,Esther
TI  - Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
SN  - 1878-0849
PY  - 2017///0210
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Developmental Disabilities
KW  - genetics
KW  - Exome
KW  - Female
KW  - Haploinsufficiency
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Microcephaly
KW  - Mutation
KW  - Phenotype
KW  - Sequence Analysis, DNA
KW  - beta Catenin
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2016.11.008
ER  -