Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. [electronic resource]
Producer: 20150420Description: 2328-34 p. digitalISSN:- 1552-4833
- Adolescent
- Adult
- Alopecia -- genetics
- Anodontia -- genetics
- Base Sequence
- Child
- Chromosome Segregation -- genetics
- DNA Mutational Analysis
- Exome -- genetics
- Facies
- Family
- Female
- Growth Disorders -- genetics
- Humans
- Male
- Microfilament Proteins
- Molecular Sequence Data
- Mutation -- genetics
- Neoplasm Proteins -- chemistry
- Optic Atrophies, Hereditary -- genetics
- Pedigree
- Protein Structure, Tertiary
- Receptors, Cell Surface -- chemistry
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Publication Type: Journal Article; Research Support, N.I.H., Extramural
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