Discover Community Create You

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

Article

The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.

American journal of medical genetics. Part A - 1 Jun 2021

Koprulu Mine, Kumare Aneeta, Bibi Anisa, Malik Sajid, Tolun Aslıhan

Abstract excerpt

Fraser syndrome is characterized by cryptophthalmos, syndactyly and other autopod defects, and abnormalities of the respiratory and urogenital tracts. Biallelic variants in GRIP1 can cause Fraser syndrome 3 (FRASRS3), and five unrelated FRASRS3 cases have been reported to date. Four cases are fetuses with homozygous truncating variants. The remaining case is an almost 9-year-old Turkish girl compound heterozygous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Adolescent
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eyelids

Share to Nerve Tissue Proteins

Share to Syndactyly

Source

Identifiers

PMID: 33709629
DOI: 10.1002/ajmg.a.62163

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.PMID 33709629Read ↗

Fraser syndrome: review of the literature illustrated by a historical adult case.Semantic proximity Read ↗

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.Semantic proximity Read ↗

A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.Semantic proximity Read ↗

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.Semantic proximity Read ↗

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.Semantic proximity Read ↗

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings.Semantic proximity Read ↗

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.Semantic proximity Read ↗

Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case ReportSemantic proximity Read ↗

Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.Semantic proximity Read ↗

The Novel Mutations in the FRAS1 Gene: Two Case ReportSemantic proximity Read ↗

Filling in the gaps on FILS syndrome: A case report and literature reviewSemantic proximity Read ↗

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.Semantic proximity Read ↗

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