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OTX2 mutations contribute to the otocephaly-dysgnathia complex

dc.contributor.authorEncha-Razavi, Ferechte
dc.contributor.authorChassaing, Nicolas
dc.contributor.authorSorrentino, Susanna
dc.contributor.authorDavis, Erica E.
dc.contributor.authorMartin-Coignard, Dominique
dc.contributor.authorIacovelli, Anthony
dc.contributor.authorPaznekas, William
dc.contributor.authorWebb, Bryn D.
dc.contributor.authorFaye-Petersen, Ona
dc.contributor.authorLequeux, Leopoldine
dc.contributor.authorVigouroux, Adeline
dc.contributor.authorYesilyurt, Ahmet
dc.contributor.authorBoyadjiev, Simeon A.
dc.contributor.authorKayserili, Hulya
dc.contributor.authorLoget, Philippe
dc.contributor.authorCarles, Dominique
dc.contributor.authorSergi, Consolato
dc.contributor.authorPuvabanditsin, Surasak
dc.contributor.authorChen, Chih-Ping
dc.contributor.authorEtchevers, Heather C.
dc.contributor.authorKatsanis, Nicholas
dc.contributor.authorMercer, Catherine L.
dc.contributor.authorCalvas, Patrick
dc.contributor.authorJabs, Ethylin Wang
dc.date.accessioned2021-03-03T12:30:03Z
dc.date.available2021-03-03T12:30:03Z
dc.date.issued2012
dc.identifier.citationChassaing N., Sorrentino S., Davis E. E. , Martin-Coignard D., Iacovelli A., Paznekas W., Webb B. D. , Faye-Petersen O., Encha-Razavi F., Lequeux L., et al., "OTX2 mutations contribute to the otocephaly-dysgnathia complex", JOURNAL OF MEDICAL GENETICS, cilt.49, sa.6, ss.373-379, 2012
dc.identifier.issn0022-2593
dc.identifier.otherav_2e6b83f9-c3f7-4ec5-898a-525da4925595
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/35760
dc.identifier.urihttps://doi.org/10.1136/jmedgenet-2012-100892
dc.description.abstractBackground Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is largely unknown in humans.
dc.language.isoeng
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titleOTX2 mutations contribute to the otocephaly-dysgnathia complex
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentCHU de Toulouse , ,
dc.identifier.volume49
dc.identifier.issue6
dc.identifier.startpage373
dc.identifier.endpage379
dc.contributor.firstauthorID204679


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