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

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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, Scopus)

• 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.