Oculodentodigital Syndrome with Syndactyly Type III in a Pakistani consanguineous family
JOURNAL OF DERMATOLOGICAL CASE REPORTS, cilt.6, sa.2, ss.43-48, 2012 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 6 Sayı: 2
- Basım Tarihi: 2012
- Doi Numarası: 10.3315/jdcr.2012.1094
- Dergi Adı: JOURNAL OF DERMATOLOGICAL CASE REPORTS
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, EMBASE
- Sayfa Sayıları: ss.43-48
- Anahtar Kelimeler: diffuse skeletal dysplasia, GJA1 gene, Oculodentodigital Syndrome, Syndactyly Type III
- İstanbul Üniversitesi Adresli: Hayır
Özet
Background: Oculodentodigital syndrome (ODD; OMIM #164200) is a rare autosomal dominant disorder with pleiotropic effects. It is caused by mutation in gap junction protein a 1 (GJA1) gene which encodes connexion 43. ODD is characterised by symptoms i.e. craniofacial, neurologic, limb, ocular abnormalities, syndactyly type III of the hands, phalangeal abnormalities, diffuse skeletal dysplasia, enamel dysplasia, and hypotrichosis.