A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of müllerian fusion anomalies
Jorgensen E, Ruman J, Doherty L, Taylor H. A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of müllerian fusion anomalies. Fertility And Sterility 2009, 92: s17. DOI: 10.1016/j.fertnstert.2009.07.066.Peer-Reviewed Original ResearchA novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies
Jorgensen EM, Ruman JI, Doherty L, Taylor HS. A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies. Fertility And Sterility 2009, 94: 1235-1238. PMID: 19591980, PMCID: PMC2889242, DOI: 10.1016/j.fertnstert.2009.05.057.Peer-Reviewed Original ResearchConceptsGenital syndromeMüllerian fusion anomaliesCase-control studyAcademic medical centerNovel mutationsFoot symptomsFusion anomaliesAbsence of mutationsMedical CenterMAIN OUTCOMENormal controlsBiopsy samplesPatientsDistal limbSeptumSyndromeHFGSFamily membersHOXA13MutationsPolyalanine tractPolyalanine expansionsSequelaeRoentgenogramsSymptoms
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