Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

Sirmaci, Asli

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