Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. [electronic resource]
Producer: 20100728Description: 146-53 p. digitalISSN:- 1537-6605
- Adult
- Bone Diseases, Developmental -- complications
- Bone Neoplasms -- complications
- Child, Preschool
- Contractile Proteins -- genetics
- Female
- Fibroma -- complications
- Filamins
- Genetic Association Studies
- Genetic Diseases, X-Linked -- genetics
- Humans
- Infant
- Infant, Newborn
- Male
- Microfilament Proteins -- genetics
- Mutation
- Neoplasm Recurrence, Local
- Pedigree
- Pigmentation Disorders -- complications
- Skin Pigmentation
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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