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

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.

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

Gonzalez Aixa, Kapur Sunaina, Walsh Matthew, Vengoechea Jaime

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Genetic Association Studies
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mediator Complex

Share to Mutation, Missense

Share to Phenotype

Source

Identifiers

PMID: 33913598
DOI: 10.1002/ajmg.a.62233

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.PMID 33913598Read ↗

A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.Semantic proximity Read ↗

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.Semantic proximity Read ↗

Variants in KAT6A and pituitary anomalies.Semantic proximity Read ↗

MED12‐related Hardikar syndrome: Two additional cases and novel phenotypic featuresSemantic proximity Read ↗

Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents.Semantic proximity Read ↗

PPP1R12A Pathogenic Variants Associated with Human Congenital Malformations Syndrome.Semantic proximity Read ↗

A novel MED12 mutation: Evidence for a fourth phenotype.Semantic proximity Read ↗

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveSemantic proximity Read ↗

A de novo C19orf12 heterozygous mutation in a patient with MPAN.Semantic proximity Read ↗

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.Semantic proximity Read ↗

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.Semantic proximity Read ↗

Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome patients.Semantic proximity Read ↗

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