Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. [electronic resource]
Producer: 20021011Description: 618-24 p. digitalISSN:- 0002-9297
- Abnormalities, Multiple -- diagnosis
- Amino Acid Sequence
- Ankylosis -- diagnosis
- Base Sequence
- Bone Morphogenetic Proteins -- genetics
- Carrier Proteins
- Codon, Nonsense -- genetics
- Female
- Frameshift Mutation -- genetics
- Genes, Dominant -- genetics
- Heterozygote
- Humans
- Hyperopia -- genetics
- Male
- Michigan
- Molecular Sequence Data
- Mutation -- genetics
- Pedigree
- Phenotype
- Radiography
- Stapes -- abnormalities
- Syndrome
- Thumb -- abnormalities
- Toes -- abnormalities
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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