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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

dc.contributor.authorClegg, Nancy J.
dc.contributor.authorDelgado, Mauricio R.
dc.contributor.authorBale, Sherri J.
dc.contributor.authorLacbawan, Felicitas
dc.contributor.authorArdinger, Holly H.
dc.contributor.authorAylsworth, Arthur S.
dc.contributor.authorBhengu, Ntombenhle Louisa
dc.contributor.authorBraddock, Stephen
dc.contributor.authorBrookhyser, Karen
dc.contributor.authorBurton, Barbara
dc.contributor.authorGaspar, Harald
dc.contributor.authorGrix, Art
dc.contributor.authorHorovitz, Dafne
dc.contributor.authorKanetzke, Erin
dc.contributor.authorLev, Dorit
dc.contributor.authorNorton, Mary
dc.contributor.authorRoberts, Richard
dc.contributor.authorSaal, Howard
dc.contributor.authorSchaefer, G. B.
dc.contributor.authorSchneider, Adele
dc.contributor.authorSmith, Erika K.
dc.contributor.authorSowry, Ellen
dc.contributor.authorSpence, M. Anne
dc.contributor.authorShalev, Stavit A.
dc.contributor.authorSteiner, Carlos E.
dc.contributor.authorThompson, Elizabeth M.
dc.contributor.authorWinder, Thomas L.
dc.contributor.authorBalog, Joan Z.
dc.contributor.authorHadley, Donald W.
dc.contributor.authorZhou, Nan
dc.contributor.authorPineda-Alvarez, Daniel E.
dc.contributor.authorRoessler, Erich
dc.contributor.authorMuenke, Maximilian
dc.contributor.authorKayserili, Hulya
dc.contributor.authorNikkel, Sarah M.
dc.contributor.authorSolomon, Benjamin D.
dc.contributor.authorBear, Kelly A.
dc.contributor.authorWyllie, Adrian
dc.contributor.authorMercier, Sandra
dc.contributor.authorKeaton, Amelia A.
dc.contributor.authorDubourg, Christele
dc.contributor.authorDavid, Veronique
dc.contributor.authorOdent, Sylvie
dc.contributor.authorHehr, Ute
dc.contributor.authorPaulussen, Aimee
dc.date.accessioned2021-03-03T15:02:36Z
dc.date.available2021-03-03T15:02:36Z
dc.date.issued2012
dc.identifier.citationSolomon B. D. , Bear K. A. , Wyllie A., Keaton A. A. , Dubourg C., David V., Mercier S., Odent S., Hehr U., Paulussen A., et al., "Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog", JOURNAL OF MEDICAL GENETICS, cilt.49, sa.7, ss.473-479, 2012
dc.identifier.issn0022-2593
dc.identifier.otherav_3ce207c3-295f-4ff2-8668-a583a2b461ef
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/44838
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2012-101008
dc.description.abstractBackground Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of nonchromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences.
dc.language.isoeng
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.titleGenotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume49
dc.identifier.issue7
dc.identifier.startpage473
dc.identifier.endpage479
dc.contributor.firstauthorID205109


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