Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)

Yamada, K; Chan, WM; Andrews, C; Bosley, TM; Sener, EC; Zwaan, JT; Mullaney, PB; Ozturk, BT; Akarsu, AYŞE; Sabol, LJ; Demer, JL; Sullivan, TJ; Gottlob, I; Roggenkaemper, P; Mackey, DA; de Uzcategui, CE; Uzcategui, N; Ben-Zeev, B; Traboulsi, EI; Magli, A; de Berardinis, T; Gagliardi, V; Awasthi-Patney, S; Vogel, MC; Rizzo, JF; Engle, EC

doi:10.1167/iovs.03-1413

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)

Atıf İçin Kopyala

Yamada K., Chan W., Andrews C., Bosley T., Sener E., Zwaan J., ...Daha Fazla

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, cilt.45, sa.7, ss.2218-2223, 2004 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 45 Sayı: 7
Basım Tarihi: 2004
Doi Numarası: 10.1167/iovs.03-1413
Dergi Adı: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.2218-2223
Hacettepe Üniversitesi Adresli: Evet

Özet

PURPOSE. Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine the incidence of KIF21A and PHOX2A mutations among individuals with the third CFEOM phenotype, CFEOM3.