Linked Life Data

8641884

Source:http://linkedlifedata.com/resource/pubmed/id/8641884

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
1996-7-18
pubmed:abstractText
Focal dermal hypoplasia (FHD) is an X chromosomal dominant inherited disease with unknown gene defect. FDH is characterized by ectodermal and mesodermal malformations. It is thought to be lethal in males; however, males may survive as mosaics or possibly as Klinefelter syndrome (XXY). When mosaicism involves the gonads the disease may be transmitted from father to child. In females, the abnormal phenotype is thought to be expressed in a blaschkoid pattern because of random X chromosome inactivation. We have collected eight cases of which three were males. We present the typical clinical dermatological feature and draw attention to cases with minimal skin involvement.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0017-8470
pubmed:author
pubmed:issnType
Print
pubmed:volume
46
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
779-84
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
[The clinical spectrum of focal dermal hypoplasia].
pubmed:affiliation
Clinique de Dermatologie, Hôpital Cantonal et Universitaire, Genève, Suisse.
pubmed:publicationType
Journal Article, English Abstract, Case Reports