Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. [electronic resource]
Producer: 20111010Description: 289-94 p. digitalISSN:- 1537-6605
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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