Identification of a novel de novo variant in < em > OTX2 < /em > in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis

CONCLUSIONS: This report demonstrates the importance of genetic counseling and underscores the efficiency and effectiveness of targeted NGS as a means of detecting variants in inherited eye disorders.PMID:34791963 | DOI:10.1080/13816810.2021.2002915

Source: Ophthalmic Genetics - November 18, 2021 Category: Opthalmology Authors: Maryam Rafati Faezeh Mohamadhashem Koosha Jalilian Fatemeh Hoseininasab Laya Fakhri Azadeh Hoseini Hosna Amiri Zeinab Barati Somayeh Darzi Ramandi Nioosha Mostofinezhad Amir Hosein Mahmoudi Saeed Reza Ghaffari Source Type: research