Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia

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 simila...

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Autores principales: Gholami Yarahmadi, Sepideh, Sarlaki, Fatemeh, Morovvati, Saeid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905136/
https://www.ncbi.nlm.nih.gov/pubmed/35280100
http://dx.doi.org/10.1002/ccr3.5532
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author Gholami Yarahmadi, Sepideh
Sarlaki, Fatemeh
Morovvati, Saeid
author_facet Gholami Yarahmadi, Sepideh
Sarlaki, Fatemeh
Morovvati, Saeid
author_sort Gholami Yarahmadi, Sepideh
collection PubMed
description 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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spelling pubmed-89051362022-03-10 Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia Gholami Yarahmadi, Sepideh Sarlaki, Fatemeh Morovvati, Saeid Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2022-03-08 /pmc/articles/PMC8905136/ /pubmed/35280100 http://dx.doi.org/10.1002/ccr3.5532 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Gholami Yarahmadi, Sepideh
Sarlaki, Fatemeh
Morovvati, Saeid
Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia
title Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia
title_full Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia
title_fullStr Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia
title_full_unstemmed Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia
title_short Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia
title_sort novel mutation in tenm3 gene in an iranian patient with colobomatous microphthalmia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905136/
https://www.ncbi.nlm.nih.gov/pubmed/35280100
http://dx.doi.org/10.1002/ccr3.5532
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AT morovvatisaeid novelmutationintenm3geneinaniranianpatientwithcolobomatousmicrophthalmia

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