Linked Life Data

681423

Source:http://linkedlifedata.com/resource/pubmed/id/681423

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1978-10-27
pubmed:abstractText
We have observed congenital hypophosphataemic rickets in two sons of a marriage between first cousins, their mother being clinically and biochemically normal. Both patients are now approaching middle age. In addition to severe childhood rickets and lifelong hypophosphataemia, their disease is characterised by gross osteosclerosis with extraskeletal ossification, clinically persistent osteomalacia in one and spinal cord compression in the other. The genetics of this disease can be satisfactorily explained only on the basis of autosomal recessive inheritance, a mode which has only once before been reported in the literature. The severity of certain features, which would be expected in a homozygous state, may help our understanding of the more usual X-linked form.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0301-620X
pubmed:author
pubmed:issnType
Print
pubmed:volume
60-B
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
430-4
pubmed:dateRevised
2010-11-10
pubmed:meshHeading
pubmed:year
1978
pubmed:articleTitle
Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases.
pubmed:publicationType
Journal Article, Case Reports