Linked Life Data

3056640

Source:http://linkedlifedata.com/resource/pubmed/id/3056640

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1989-1-11
pubmed:abstractText
A 27-year-old male with hypomelanosis of Ito (HI) is reported. One of his two children had a postaxial ray defect of one leg but neither had cutaneous features of HI. Somatic mosaicism for a gene defect lethal to ectodermal derivatives offers the best explanation for HI in males, with consequent negligible recurrence risk. The limb defect is considered coincidental. The excess of girls with HI could be due to a female cohort with incontinentia pigmenti (IP) which may be indistinguishable: counselling of females must therefore take account of possible X-linked inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
109-15
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1988
pubmed:articleTitle
Genetic counselling in hypomelanosis of Ito: case report and review.
pubmed:affiliation
Department of Dermatology, University of Newcastle-upon-Tyne, UK.
pubmed:publicationType
Journal Article, Review, Case Reports