Mutations responsible for Larsen syndrome cluster in the FLNB protein. [electronic resource]
Producer: 20060717Description: e24 p. digitalISSN:- 1468-6244
- Abnormalities, Multiple -- diagnosis
- Amino Acid Sequence
- Contractile Proteins -- chemistry
- Face -- abnormalities
- Female
- Filamins
- Foot Deformities, Congenital -- diagnosis
- Genetic Testing
- Humans
- Joint Instability -- diagnosis
- Male
- Microfilament Proteins -- chemistry
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Sequence Alignment
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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