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

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

Rogers Alice P, Friend Kathryn, Rawlings Lesley, Barnett Christopher P

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 Developmental Disabilities
Share to Dwarfism
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Mediator Complex

Share to Megalencephaly

Share to Mutation, Missense

Share to Phenotype

Source

Identifiers

PMID: 33931951
DOI: 10.1002/ajmg.a.62238

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.PMID 33931951Read ↗

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.Semantic proximity Read ↗

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

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.Semantic proximity Read ↗

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

Two novel pathogenic variants in MED13L: one familial and one isolated case.Semantic proximity Read ↗

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.Semantic proximity Read ↗

Expansion of the Phenotypic and Genotypic Spectrum of MED13L-Associated Neurodevelopmental Disorder: A Case Report and Literature Review.Semantic proximity Read ↗

A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.Semantic proximity Read ↗

De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations.Semantic proximity Read ↗

Redefining the MED13L syndrome.Semantic proximity Read ↗

MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.Semantic proximity Read ↗

[Clinical phenotype and genetic analysis of MED13L syndrome].Semantic proximity Read ↗

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