Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/70902
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dc.contributor.authorGarcia-Ortiz, J.E.
dc.contributor.authorBanda-Espinoza, F.
dc.contributor.authorZenteno, J.C.
dc.contributor.authorGalvan-Uriarte, L.M.
dc.contributor.authorRuiz-Flores, P.
dc.contributor.authorGarcia-Cruz, D.
dc.date.accessioned2015-11-19T18:57:31Z-
dc.date.available2015-11-19T18:57:31Z-
dc.date.issued2005
dc.identifier.urihttp://hdl.handle.net/20.500.12104/70902-
dc.description.abstractSplit hand/foot malformation (SHFM) is a genetically heterogeneous limb malformation that may be isolated or associated with other malformations. More than 50 recognizable entities with SHFM have been described and at least 5 mapped genetic loci have been implicated. Two brothers with intrauterine growth retardation, short stature, distinctive face, microphthalmia, genital anomalies, and SHFM are described. Molecular analyses of TP63, HOXA13, and HOXD13 genes were normal. We propose this pattern to be a newly recognized SHFM syndrome. © 2005 Wiley-Liss, Inc.
dc.titleSplit hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome
dc.typeArticle
dc.identifier.doi10.1002/ajmg.a.30696
dc.relation.ispartofjournalAmerican Journal of Medical Genetics
dc.relation.ispartofvolume135 A
dc.relation.ispartofissue1
dc.relation.ispartofpage21
dc.relation.ispartofpage27
dc.subject.keywordHypospadias; p63; Short stature; Syndromic ectrodactyly/SHFM
dc.contributor.affiliationGarcía-Ortiz, J.E., Depto. de Inmunobiologia Molecular, CIB, Fac. Med. Univ. Auton. Coahuila, Torreón, Coahuila, Mexico, Genética Humana, CUCS-Universidad de Guadalajara, Guadalajara, Jalisco, Mexico, Division de Genética, CIBO-IMSS, Sierra Mojada 800, CP 44340, Guadalajara, Jalisco, Mexico; Banda-Espinoza, F., Depto. de Endocrinologia Pediatrica, Hospital General de Zona, IMSS, Torreón, Coahuila, Mexico; Zenteno, J.C., Departamento de Genetica, Unidad de Investigación, Inst. Oftalmol. Conde de Valenciana, México D.F., Mexico; Galván-Uriarte, L.M., Departamento de Genética, CIB, Fac. Med. Univ. Auton. Coahuila, Torreón, Coahuila, Mexico; Ruiz-Flores, P., Departamento de Genética, CIB, Fac. Med. Univ. Auton. Coahuila, Torreón, Coahuila, Mexico; García-Cruz, D., División de Genética, Ctro. Invest. Biomed. Occidente, CMNO-IMSS, Guadalajara, Jalisco, Mexico, Genética Humana, CUCS-Universidad de Guadalajara, Guadalajara, Jalisco, Mexico
dc.relation.isReferencedByScopus
dc.relation.isReferencedByWOS
dc.identifier.urlhttp://www.scopus.com/inward/record.url?eid=2-s2.0-18244373461&partnerID=40&md5=c67466e5ab3107978469cea2013fb593
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