Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1992-5-1
pubmed:abstractText
We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0197-3851
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
19-29
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:1557308-Adult, pubmed-meshheading:1557308-Amniocentesis, pubmed-meshheading:1557308-Amniotic Fluid, pubmed-meshheading:1557308-Arylsulfatases, pubmed-meshheading:1557308-Blotting, Southern, pubmed-meshheading:1557308-Brain, pubmed-meshheading:1557308-Calcium-Binding Proteins, pubmed-meshheading:1557308-Chondrodysplasia Punctata, pubmed-meshheading:1557308-Chromosome Deletion, pubmed-meshheading:1557308-Eunuchism, pubmed-meshheading:1557308-Extracellular Matrix Proteins, pubmed-meshheading:1557308-Female, pubmed-meshheading:1557308-Gonadotropin-Releasing Hormone, pubmed-meshheading:1557308-Humans, pubmed-meshheading:1557308-Ichthyosis, pubmed-meshheading:1557308-Karyotyping, pubmed-meshheading:1557308-Kidney, pubmed-meshheading:1557308-Olfactory Nerve, pubmed-meshheading:1557308-Pregnancy, pubmed-meshheading:1557308-Pregnancy Trimester, Second, pubmed-meshheading:1557308-Prenatal Diagnosis, pubmed-meshheading:1557308-Sex Chromosome Aberrations, pubmed-meshheading:1557308-Steryl-Sulfatase, pubmed-meshheading:1557308-Ultrasonography, Prenatal, pubmed-meshheading:1557308-X Chromosome
pubmed:year
1992
pubmed:articleTitle
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.
pubmed:affiliation
Genetics and IVF Institute, Fairfax, Virginia 22031.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't