TY  - GEN
AU  - Wallace,Stephanie E
AU  - Lachman,Ralph S
AU  - Mekikian,Pertchoui B
AU  - Bui,Kathy K
AU  - Wilcox,William R
TI  - Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review
SN  - 1552-4825
PY  - 2005///0318
KW  - Adrenal Cortex Hormones
KW  - therapeutic use
KW  - Adult
KW  - Base Sequence
KW  - Bones of Upper Extremity
KW  - diagnostic imaging
KW  - Camurati-Engelmann Syndrome
KW  - drug therapy
KW  - Chromosomes, Human, Pair 19
KW  - genetics
KW  - DNA Mutational Analysis
KW  - DNA Primers
KW  - Female
KW  - Gene Components
KW  - Genetic Linkage
KW  - Humans
KW  - Infant, Newborn
KW  - Leg Bones
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Radiography
KW  - Sequence Analysis, DNA
KW  - Skull
KW  - Tandem Repeat Sequences
KW  - Transforming Growth Factor beta
N1  - Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/ajmg.a.30148
ER  -