Article

Novel mutation in TENM3 gene in an Iranian patient with Colobomatous Microphthalmia

2022-01-24

Abstract excerpt

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.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4775913c-2aee-5956-b4cf-a60bd557bb83
DOI: 10.22541/au.164301992.24701362/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel mutation in TENM3 gene in an Iranian patient with Colobomatous MicrophthalmiaDOI 10.22541/au.164301992.24701362/v1Read

Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.Semantic proximity Read

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.Semantic proximity Read

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.Semantic proximity Read

Two novel variants in ALDH1A3 associated with anophthalmia and congenital cystic eye.Semantic proximity Read

Mutations in ALDH1A3 represent a frequent cause of microphthalmia/anophthalmia in consanguineous families.Semantic proximity Read

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.Semantic proximity Read

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.Semantic proximity Read

ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.Semantic proximity Read

Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing.Semantic proximity Read

Mutations in ALDH1A3 cause microphthalmia.Semantic proximity Read

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmiaSemantic proximity Read

Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia–microphthalmiaSemantic proximity Read