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

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.

European journal of medical genetics - 1 Mar 2017

Chacon-Camacho Oscar F, Zenker Martin, Schanze Denny, Ledesma-Gil Jasbeth, Zenteno Juan C

Abstract excerpt

Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral...

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 Anal Canal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Coloboma

Share to Eyelids

Share to Hypertelorism

Share to Phenotype

Share to Receptors, Interleukin

Source

Identifiers

PMID: 28111185
DOI: 10.1016/j.ejmg.2017.01.005

Genes

FREM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel FREM1 mutations in a patient with MOTA syndrome: Clinical findings, mutation update and review of FREM1-related disorders literature.PMID 28111185Read ↗

Facial cleft? The first case of manitoba-oculo-tricho-anal syndrome with novel mutations in China: a case report.Semantic proximity Read ↗

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.Semantic proximity Read ↗

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.Semantic proximity Read ↗

Bilateral cryptophthalmos with overlapping features of Manitoba oculo-tricho-anal (MOTA) syndrome and Fraser syndrome 2.Semantic proximity Read ↗

Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.Semantic proximity Read ↗

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.Semantic proximity Read ↗

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.Semantic proximity Read ↗

A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.Semantic proximity Read ↗

Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.Semantic proximity Read ↗

A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.Semantic proximity Read ↗

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations SyndromeSemantic proximity Read ↗

Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.Semantic proximity Read ↗

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