Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Kharbanda, Mira
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. [electronic resource] - European journal of medical genetics Feb 2017 - 130-135 p. digital
Publication Type: Journal Article
1878-0849
10.1016/j.ejmg.2016.11.008 doi
Adolescent
Adult
Child
Child, Preschool
Developmental Disabilities--genetics
Exome--genetics
Female
Haploinsufficiency--genetics
Humans
Intellectual Disability--genetics
Male
Microcephaly--genetics
Mutation
Phenotype
Sequence Analysis, DNA
beta Catenin--genetics
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. [electronic resource] - European journal of medical genetics Feb 2017 - 130-135 p. digital
Publication Type: Journal Article
1878-0849
10.1016/j.ejmg.2016.11.008 doi
Adolescent
Adult
Child
Child, Preschool
Developmental Disabilities--genetics
Exome--genetics
Female
Haploinsufficiency--genetics
Humans
Intellectual Disability--genetics
Male
Microcephaly--genetics
Mutation
Phenotype
Sequence Analysis, DNA
beta Catenin--genetics