Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Topics Community

Article

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

European journal of medical genetics - 1 Aug 2023

Piryaei Fahimeh, Pakmanesh Rezvan, Salehirad Maryam, Akbari Soheila, Edizadeh Masoud, Khodadadi Hamidreza

Abstract excerpt

Microphthalmia (MCOP) is a group of rare developmental malformations of eye with often reduced size of the eyeball, leading to blindness. Affecting about 1 in 7000 live births, MCOP can occur due to either environmental or genetic factors. Isolated microphthalmia-8 (MCOP8) has been proved to be caused by autosomal recessive mutations of the ALDH1A3 gene (MIM*600463) encoding aldehyde dehydrogenase 1 family,...

Topics

Child
Humans
Male
Aldehyde Oxidoreductases
Anophthalmos
Blindness
Microphthalmos
Mutation
Pedigree

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37339696
DOI: 10.1016/j.ejmg.2023.104801

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.PMID 37339696Read ↗

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

Mutations in ALDH1A3 cause 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 ↗

Genetic Advances in MicrophthalmiaSemantic proximity Read ↗

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.Semantic proximity Read ↗

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.Semantic proximity Read ↗

Genetic analysis of consanguineous families presenting with congenital ocular defects.Semantic proximity Read ↗

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

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

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.Semantic proximity Read ↗

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.