Linked Life Data

16549711

Source:http://linkedlifedata.com/resource/pubmed/id/16549711

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2006-3-21
pubmed:abstractText
CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects, Online Mendelian Inheritance in Man 308050) is an X-linked dominant trait with lethality for male embryos. The disorder is caused by mutations in NSDHL (Online Mendelian Inheritance in Man 300275), a gene playing an important role in the cholesterol biosynthetic pathway. Most reports deal with sporadic cases, and only 5 cases of mother-to-daughter transmission have been documented. We present here a family with mild features of CHILD syndrome in 3 generations. Molecular analysis was used to confirm the diagnosis.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0003-987X
pubmed:author
pubmed:issnType
Print
pubmed:volume
142
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
348-51
pubmed:dateRevised
2008-3-17
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.
pubmed:affiliation
Department of Dermatology and Center of Human Genetics, University of Marburg, Marburg, Germany. mariobittar@web.de
pubmed:publicationType
Journal Article, Case Reports