Linked Life Data

19303465

Source:http://linkedlifedata.com/resource/pubmed/id/19303465

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2-3
pubmed:dateCreated
2009-5-15
pubmed:abstractText
Clinical and molecular characteristics of two patients with a 6.75Mb overlapping interstitial deletion in the 8p12p21 region are described and compared with previously reported cases with an overlapping deletion. The most common characteristics of interstitial deletions of proximal 8p are developmental delay, postnatal microcephaly and growth retardation. Other frequently reported findings are hypogonadism associated with haploinsufficiency of GNRH1 and ocular problems. Congenital heart anomalies are also common and might at least to some extent be due to haploinsufficiency of NKX2-6 or NRG1. The aforementioned clinical characteristics should be considered in the care of patients with a proximal interstitial 8p12p21 deletion.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1878-0849
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
52
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
134-9
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:articleTitle
Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.
pubmed:affiliation
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. m.willemsen@antrg.umcn.nl
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't