Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report

• Main Authors: Pooneh Nikuei (Author), Ph.D (Author), Zahra Khashavy (Author), Mohammad Ali Farazi Fard (Author), Shahrzad Tabasi4 Pharm.D. Student (Author), Ari Zeidi5 B.Sc. Student (Author), Parnian Pourkashani (Author), Zahra Tabatabaei (Author), Ebrahim Eftekhar (Author), Mozhgan Saberi (Author), Frouzandeh Mahjoubi (Author)
• Format: Book
• Published: Shahid Sadoughi University of Medical Sciences, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background: Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance. SOX2 mutations could result in severe ocular phenotypes usually associated with variable systemic defects. Most patients described with...