Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. [electronic resource]
Producer: 20050318Description: 235-47 p. digitalISSN:- 1552-4825
- Adrenal Cortex Hormones -- therapeutic use
- Adult
- Base Sequence
- Bones of Upper Extremity -- diagnostic imaging
- Camurati-Engelmann Syndrome -- drug therapy
- Chromosomes, Human, Pair 19 -- genetics
- DNA Mutational Analysis
- DNA Primers
- Female
- Gene Components
- Genetic Linkage
- Humans
- Infant, Newborn
- Leg Bones -- diagnostic imaging
- Male
- Mutation, Missense -- genetics
- Pedigree
- Phenotype
- Radiography
- Sequence Analysis, DNA
- Skull -- diagnostic imaging
- Tandem Repeat Sequences -- genetics
- Transforming Growth Factor beta -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
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