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

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

European journal of human genetics : EJHG - 1 Feb 2013

Marangi Giuseppe, Leuzzi Vincenzo, Manti Filippo, Lattante Serena, Orteschi Daniela, Pecile Vanna, Neri Giovanni, Zollino Marcella

Abstract excerpt

Intellectual disability (ID) with autosomal recessive (AR) inheritance is believed to be common; however, very little is known about causative genes and genotype-phenotype correlations. The broad genetic heterogeneity of AR-ID, and its usually nonsyndromic nature make it difficult to pool multiple pedigrees with the same underlying genetic defect to achieve consistent nosology. Nearly all autosomal genes...

Read the complete abstract on PubMed

Topics

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

Share to Carrier Proteins
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Intellectual Disability

Share to Intercellular Signaling Peptides and Proteins

Share to Middle East

Share to Obesity

Share to Prader-Willi Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 22549410
DOI: 10.1038/ejhg.2012.79
PMCID: PMC3548258

Genes

TRAPPC9

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

TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.PMID 22549410Read ↗

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.Semantic proximity Read ↗

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.Semantic proximity Read ↗

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability.Semantic proximity Read ↗

Introducing a novel homozygote TRAPPC10 mutation as a potential cause of developmental delay and intellectual disability in an Iranian familySemantic proximity Read ↗

Introducing a novel TRAPPC10 gene variant as a potential cause of developmental delay and intellectual disability in an Iranian family.Semantic proximity Read ↗

Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.Semantic proximity Read ↗

TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.Semantic proximity Read ↗

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.Semantic proximity Read ↗

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.Semantic proximity Read ↗

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.Semantic proximity Read ↗

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.Semantic proximity Read ↗

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.Semantic proximity Read ↗

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