Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1997-3-26
pubmed:abstractText
Split hand-split foot malformation (SHFM) is a genetically heterogeneous limb developmental defect characterised by the absence of digital rays and syndactyly of the remaining digits. Three disease loci have recently been mapped to chromosomes 7q21 (SHFM1), Xq26 (SHFM2), and 10q25 respectively (SHFM3). We report the mapping of SHFM3 to chromosome 10q25 in two large SHFM families of French ancestry (Zmax for the combined families = 6.62 at theta = 0 for marker AFM249wc5 at locus D10S222). Two recombinant events reduced the critical region to a 9 cM interval (D10S1709-D10S1663) encompassing several candidate genes including a paired box gene PAX2 (Zmax = 5.35 at theta = 0). The fibroblast growth factor 8 (FGF 8), the retinol binding protein (RBP4), the zinc finger protein (ZNF32), and the homeobox genes HMX2 and HOX11 are also good candidates by both their position and their function.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-1436057, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-1681546, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-1877619, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-2928844, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-3817811, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-3859205, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-5094721, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-6585139, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-7288137, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-7647458, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-7795640, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-7802032, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-7920632, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-7981748, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-7987313, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8023840, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8322806, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8454282, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8500793, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8589697, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8595889, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8600387, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8666395, http://linkedlifedata.com/resource/pubmed/commentcorrection/9004130-8723077
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
33
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
996-1001
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.
pubmed:affiliation
Département de Génétique, INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't