Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Wallace, Stephanie E
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] - American journal of medical genetics. Part A Sep 2004 - 235-47 p. digital
Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
1552-4825
10.1002/ajmg.a.30148 doi
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
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] - American journal of medical genetics. Part A Sep 2004 - 235-47 p. digital
Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.
1552-4825
10.1002/ajmg.a.30148 doi
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