Linked Life Data

21931045

Source:http://linkedlifedata.com/resource/pubmed/id/21931045

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
9
pubmed:dateCreated
2011-9-20
pubmed:abstractText
X-linked dominant chondrodysplasia punctata, also known as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia. Conradi-Hünermann-Happle syndrome is caused by mutations in the gene EBP encoding ?(8)-?(7) sterol isomerase emopamil-binding protein. Random X-inactivation could account for the intrafamilial variability of the phenotype of X-linked dominant chondrodysplasia punctata.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
1538-3652
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
147
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1073-6
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.
pubmed:affiliation
Service de Génétique Médicale, Université de Bordeaux 2, Centre Hôpitalier Universitaire de Bordeaux, Bordeaux, France. fanny.morice-picard@chu-bordeaux.fr
pubmed:publicationType
Journal Article, Case Reports