Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia
Abstract This investigation revealed a homozygous c.5069‐1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detection of carriers in the family and other patients wi...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2022-03-01
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Series: | Clinical Case Reports |
Subjects: | |
Online Access: | https://doi.org/10.1002/ccr3.5532 |
Summary: | Abstract This investigation revealed a homozygous c.5069‐1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detection of carriers in the family and other patients with similar disease manifestations. |
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ISSN: | 2050-0904 |