Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

Panagiotou, Evangelia; Fernandez-Fuentes, Narcis; Farraj, Layal; McKibbin, Martin; ELÇİOĞLU, HURİYE; Jafri, Hussain; ÇERMAN, EREN; Parry, David; V. Logan, Clare; Johnson, Colin; Inglehearn, Chris; Toomes, Carmel; Ali, Manir

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia

Atıf İçin Kopyala

Panagiotou E. S., Fernandez-Fuentes N., Farraj L. A., McKibbin M., ELÇİOĞLU H. N., Jafri H., ...Daha Fazla

MOLECULAR VISION, cilt.28, ss.57-69, 2022 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 28
Basım Tarihi: 2022
Dergi Adı: MOLECULAR VISION
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Directory of Open Access Journals
Sayfa Sayıları: ss.57-69
Marmara Üniversitesi Adresli: Evet

Özet

Purpose: To investigate the molecular basis of recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia in two consanguineous families.