Novel mutation in TENM3 gene in an Iranian patient with Colobomatous
Microphthalmia
- Sepideh Gholami Yarahmadi
, - fatemeh sarlaki,
- Saeid Morovvai
fatemeh sarlaki
Shahid Beheshti University of Medical Sciences
Author ProfileSaeid Morovvai
Islamic Azad University Tehran Medical Sciences
Author ProfileAbstract
Anophthalmia AO and microphthalmia MO have both heritable and
environmental causes. The proband described in this study was a
32-year-old symptomatic The detected homozygous canonical splice site
variant in the TENM3 gene has not been reported up to now for its
pathogenicity and can be considered as a novel mutation.04 Jan 2022Submitted to Clinical Case Reports 11 Jan 2022Submission Checks Completed
11 Jan 2022Assigned to Editor
24 Jan 2022Reviewer(s) Assigned
27 Jan 2022Review(s) Completed, Editorial Evaluation Pending
28 Jan 2022Editorial Decision: Revise Minor
02 Feb 20221st Revision Received
03 Feb 2022Submission Checks Completed
03 Feb 2022Assigned to Editor
03 Feb 2022Review(s) Completed, Editorial Evaluation Pending
16 Feb 2022Editorial Decision: Accept
