Source:http://linkedlifedata.com/resource/pubmed/id/19830424
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2010-1-21
|
| pubmed:abstractText |
To report on the biochemistry and clinical and genetic findings of two siblings, the younger sister presenting with recurrent bone pain of the radius and ulna, and medullary sclerosis, and the older brother with soft tissue calcific deposits (tumoral calcinosis) but who later developed bone pain. Both were found to be hyperphosphaturic.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
1432-2161
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
39
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
63-8
|
| pubmed:meshHeading |
pubmed-meshheading:19830424-Adolescent,
pubmed-meshheading:19830424-Bone Neoplasms,
pubmed-meshheading:19830424-Calcinosis,
pubmed-meshheading:19830424-Female,
pubmed-meshheading:19830424-Genetic Predisposition to Disease,
pubmed-meshheading:19830424-Humans,
pubmed-meshheading:19830424-Hyperphosphatemia,
pubmed-meshheading:19830424-Male,
pubmed-meshheading:19830424-Mutation, Missense,
pubmed-meshheading:19830424-N-Acetylgalactosaminyltransferases,
pubmed-meshheading:19830424-Polymerase Chain Reaction
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3.
|
| pubmed:affiliation |
Department of Orthopaedic Surgery, Vinodhagan Memorial Hospital and Dr. Joseph's Ortho Clinic, Thanjavur, India.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|