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

A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome.

European journal of medical genetics - 1 Aug 2021

Endrakanti Mounika, Saluja Sumedha, Ethayathulla Abdul S, Sapra Savita, Dalal Ashwin, Palanichamy Jayanth Kumar, Gupta Neerja

Abstract excerpt

Van Esch-O'Driscoll syndrome (VEODS) is a rare cause of syndromic X-linked intellectual disability characterised by short stature, microcephaly, variable degree of intellectual disability, and hypogonadotropic hypogonadism. To date, heterozygous hypomorphic variants in the gene encoding the DNA Polymerase α subunit, POLA1, have been observed in nine patients from five unrelated families with VEODS. We report a...

Read the complete abstract on PubMed

Topics

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

Share to DNA Polymerase I
Share to Hypogonadism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Intellectual Disability

Share to Phenotype

Share to RNA Splicing

Share to Syndrome

Source

Identifiers

PMID: 34119699
DOI: 10.1016/j.ejmg.2021.104261

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome.PMID 34119699Read ↗

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.Semantic proximity Read ↗

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.Semantic proximity Read ↗

Novel variants in the SOX11 gene: clinical description of seven new patients.Semantic proximity Read ↗

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)Semantic proximity Read ↗

A synonymous POLR3A variant may relate to Wiedemann-Rautenstrauch syndromewithout developmental delay or intellectual disabilitySemantic proximity Read ↗

Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadismSemantic proximity Read ↗

Atypical splice-site mutations causing VEXAS syndrome.Semantic proximity Read ↗

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.Semantic proximity Read ↗

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report.Semantic proximity Read ↗

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.Semantic proximity Read ↗

SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum.Semantic proximity Read ↗

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.Semantic proximity Read ↗

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