[Case of a Japanese female presenting severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) syndrome with a K650M mutation in the fibroblast growth factor receptor 3 gene]. [electronic resource]
Producer: 20090107Description: 478-82 p. digitalISSN:- 0029-0831
- Acanthosis Nigricans -- genetics
- Achondroplasia -- genetics
- Adult
- Asian People
- Bone Diseases, Developmental -- genetics
- Cerebrum -- abnormalities
- Female
- Humans
- Intellectual Disability -- genetics
- Point Mutation
- Receptor, Fibroblast Growth Factor, Type 3 -- genetics
- Seizures
- Severity of Illness Index
- Syndrome
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Publication Type: Case Reports; Journal Article
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