|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0026882,
umls-concept:C0030705,
umls-concept:C0032659,
umls-concept:C0071505,
umls-concept:C1415596,
umls-concept:C1514562,
umls-concept:C1531773,
umls-concept:C1705241,
umls-concept:C1705242,
umls-concept:C1880389,
umls-concept:C1883204,
umls-concept:C1883221
|
|
pubmed:issue |
1
|
|
pubmed:dateCreated |
2006-1-4
|
|
pubmed:abstractText |
The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in HLXB9.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jan
|
|
pubmed:issn |
0009-9147
|
|
pubmed:author |
pubmed-author:AleckKirkK,
pubmed-author:BelloniElenaE,
pubmed-author:CaiWei-SongWS,
pubmed-author:FuMingM,
pubmed-author:Garcia-BarcelóMercèM,
pubmed-author:GutterEmilyE,
pubmed-author:HerbrickJo-AnneJA,
pubmed-author:LauDanny Ko-ChunDK,
pubmed-author:LeonThomas Yuk-YuTY,
pubmed-author:LuiVincent Chi-HangVC,
pubmed-author:MORAPP,
pubmed-author:Pierre-LouisJacquelineJ,
pubmed-author:ProudVirginiaV,
pubmed-author:SchererStephen WSW,
pubmed-author:SoMan-TingMT,
pubmed-author:TamPaul Kwong-HangPK,
pubmed-author:YuanZheng-WeiZW,
pubmed-author:van HeurnErnestE
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
52
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
46-52
|
|
pubmed:dateRevised |
2008-9-13
|
|
pubmed:meshHeading |
pubmed-meshheading:16254195-Abnormalities, Multiple,
pubmed-meshheading:16254195-Anal Canal,
pubmed-meshheading:16254195-Female,
pubmed-meshheading:16254195-Genetics, Population,
pubmed-meshheading:16254195-Homeodomain Proteins,
pubmed-meshheading:16254195-Humans,
pubmed-meshheading:16254195-Male,
pubmed-meshheading:16254195-Mutation,
pubmed-meshheading:16254195-Pedigree,
pubmed-meshheading:16254195-Peptides,
pubmed-meshheading:16254195-Polymorphism, Genetic,
pubmed-meshheading:16254195-Protein Structure, Tertiary,
pubmed-meshheading:16254195-Sacrum,
pubmed-meshheading:16254195-Syndrome,
pubmed-meshheading:16254195-Transcription Factors
|
|
pubmed:year |
2006
|
|
pubmed:articleTitle |
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome.
|
|
pubmed:affiliation |
Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China.
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
