Linked Life Data

19161143

Source:http://linkedlifedata.com/resource/pubmed/id/19161143

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-1-28
pubmed:abstractText
We report on two children from an inbred Arab family with anterior segment anomalies of the eyes, growth retardation, associated with small pituitary gland, and endocrine abnormalities. The features in the sibs in this report are similar to those described in Peters-plus syndrome. However, small pituitary gland associated with growth hormone deficiency has not been reported in Peters-plus syndrome. In addition, sequencing of the B3GALTL gene, the gene implicated in Peters-plus syndrome did not reveal any mutation in the sibs reported here. The association of anterior segment anomalies of the eye, growth retardation, and endocrine problems has previously been described by Jung et al. in 1995. We suggest that the features in the children in this report could represent variable manifestation of this syndrome or previously not described syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1552-4833
pubmed:author
pubmed:copyrightInfo
(c) 2009 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
149A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
251-6
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?
pubmed:affiliation
Department of Paediatrics and Pathology, Faculty of Medicine & Health Sciences, UAE University, Al Ain, UAE. algazali@hotmail.com
pubmed:publicationType
Journal Article, Case Reports