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

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

5 Oct 2018

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 Congenital heart defects research
Share to Genetics and Neurodevelopmental Disorders
Share to Peptidase Inhibition and Analysis

Source

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

Identifiers

PMID: 30291340
DOI: 10.1038/s41431-018-0281-5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 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

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityPMID 30291340Read ↗

De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.Semantic proximity Read ↗

MEIS2 involvement in cardiac development, cleft palate, and intellectual disability.Semantic proximity Read ↗

De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.Semantic proximity Read ↗

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.Semantic proximity Read ↗

A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly.Semantic proximity Read ↗

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

Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.Semantic proximity Read ↗

Functional analysis of <i>ESRP1/2</i> gene variants and <i>CTNND1</i> isoforms in orofacial cleft pathogenesisSemantic proximity Read ↗

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.Semantic proximity Read ↗

A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.Semantic proximity Read ↗

Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum.Semantic proximity Read ↗

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.Semantic proximity Read ↗

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