Basit öğe kaydını göster

dc.contributor.authorTuysuz, Beyhan
dc.contributor.authorGüneş, Neşe
dc.contributor.authorCengiz, F. B.
dc.contributor.authorDuman, D.
dc.contributor.authorTekin, M.
dc.contributor.authorDervisoglu, S.
dc.date.accessioned2021-03-03T19:44:49Z
dc.date.available2021-03-03T19:44:49Z
dc.date.issued2014
dc.identifier.citationGüneş N., Cengiz F. B. , Duman D., Dervisoglu S., Tekin M., Tuysuz B., "BRANCHIO-OCULO-FACIAL SYNDROME IN A NEWBORN CAUSED BY A NOVEL TFAP2A MUTATION", GENETIC COUNSELING, cilt.25, sa.1, ss.41-47, 2014
dc.identifier.issn1015-8146
dc.identifier.otherav_563c9dfa-efd9-4193-a9e9-5ebd9f0faa33
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/60901
dc.description.abstractBranchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation: We present an 18-day old boy with bilateral cervical cutaneous defect in the retroauricular region, low-set and posteriorly rotated ears, bilateral microphtalmia and bilateral pseudocleft of the upper lip. Histopathological evaluation of cervical cutaneous defect showed ulceration on the surface and ectopic thymus tissue in the deep dermis with cortex, medulla and Hassal's corpuscles. Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum). DNA sequencing showed a novel heterozygous mutation, c.731T>C (p.L244P), in TFAP2A gene confirming the diagnosis of this rare autosomal dominant developmental disorder with variable clinical findings.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectBiyoteknoloji
dc.subjectBİYOTEKNOLOJİ VE UYGULAMALI MİKROBİYOLOJİ
dc.subjectMikrobiyoloji
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTIBBİ ETİK
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTIP, ARAŞTIRMA VE DENEYSEL
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectTıp Eğitimi
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectTıbbi Ekoloji ve Hidroklimatoloji
dc.subjectYaşam Bilimleri
dc.titleBRANCHIO-OCULO-FACIAL SYNDROME IN A NEWBORN CAUSED BY A NOVEL TFAP2A MUTATION
dc.typeMakale
dc.relation.journalGENETIC COUNSELING
dc.contributor.departmentİstanbul Teknik Üniversitesi , Bilgisayar Ve Bilişim , Bilgisayar Mühendisliği
dc.identifier.volume25
dc.identifier.issue1
dc.identifier.startpage41
dc.identifier.endpage47
dc.contributor.firstauthorID9335


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster