Wallace, Stephanie E <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.30148  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adrenal Cortex Hormones--therapeutic use<br/>Adult<br/>Base Sequence<br/>Bones of Upper Extremity--diagnostic imaging<br/>Camurati-Engelmann Syndrome--drug therapy<br/>Chromosomes, Human, Pair 19--genetics<br/>DNA Mutational Analysis<br/>DNA Primers<br/>Female<br/>Gene Components<br/>Genetic Linkage<br/>Humans<br/>Infant, Newborn<br/>Leg Bones--diagnostic imaging<br/>Male<br/>Mutation, Missense--genetics<br/>Pedigree<br/>Phenotype<br/>Radiography<br/>Sequence Analysis, DNA<br/>Skull--diagnostic imaging<br/>Tandem Repeat Sequences--genetics<br/>Transforming Growth Factor beta--genetics