Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. [electronic resource]
- American journal of human genetics Aug 2011
- 289-94 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2011.06.007 doi
Abnormalities, Multiple--genetics Adult Amino Acid Sequence Base Sequence Bone Diseases, Developmental--complications Bone and Bones--abnormalities Cell Nucleus--metabolism Child DNA Mutational Analysis Exons--genetics Facies Female Humans Intellectual Disability--complications Male Middle Aged Molecular Sequence Data Mutation--genetics Pedigree Phenotype Protein Structure, Tertiary Repressor Proteins--chemistry Tooth Abnormalities--complications Young Adult