Linked Life Data

10204852

Source:http://linkedlifedata.com/resource/pubmed/id/10204852

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1999-6-11
pubmed:abstractText
A 3 year old boy with a de novo deletion (14)(q11.2q13) of paternal origin encompassing the region from D14S264 to D14S70 is described. The patient presented with severe psychomotor retardation, bilateral cleft lip/palate, bilateral colobomas of the optic nerves and retinas, agenesis of the corpus callosum, pes calcaneovarus, reduced oesophageal peristalsis, and swallowing difficulties. This is the first reported case of PAX9 hemizygosity in humans. Haploinsufficiency of the PAX9 gene might be expected to cause some of the developmental defects and the dysphagia. Another haploinsufficiency candidate gene, the bZIP transcription factor gene NRL, which is specifically expressed in neuronal cells and the eye during embryogenesis, was excluded from the deletion interval.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
233-6
pubmed:dateRevised
2008-11-20
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.
pubmed:affiliation
Department of Medical Genetics, Children's Hospital, Ludwig-Maximilians-University Munich, Germany.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't