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

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Pediatric research - 1 Dec 2016

Caro-Llopis Alfonso, Rosello Monica, Orellana Carmen, Oltra Silvestre, Monfort Sandra, Mayo Sonia, Martinez Francisco

Abstract excerpt

BACKGROUND: Mutations in the X-linked gene MED12 cause at least three different, but closely related, entities of syndromic intellectual disability. Recently, a new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. METHODS: Genotyping of 1,256 genes related with...

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 Amino Acid Substitution

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Intellectual Disability

Share to Mediator Complex

Share to Mutant Proteins

Share to Mutation, Missense

Share to Syndrome

Source

Identifiers

PMID: 27500536
DOI: 10.1038/pr.2016.162

Genes

MED12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?PMID 27500536Read ↗

MED12 related disorders.Semantic proximity Read ↗

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.Semantic proximity Read ↗

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.Semantic proximity Read ↗

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.Semantic proximity Read ↗

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.Semantic proximity Read ↗

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

MED12 mutations in human diseases.Semantic proximity Read ↗

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.Semantic proximity Read ↗

MED13L-related intellectual disability due to paternal germinal mosaicism.Semantic proximity Read ↗

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).Semantic proximity Read ↗

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.Semantic proximity Read ↗

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.Semantic proximity Read ↗

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