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

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.

Clinical genetics - 1 Jan 2011

Filges I, Röthlisberger B, Blattner A, Boesch N, Demougin P, Wenzel F, Huber A R, Heinimann K, Weber P, Miny P

Abstract excerpt

Submicroscopic chromosomal anomalies play an important role in the aetiology of intellectual disability (ID) and have been shown to account for up to 10% of non-syndromic forms. We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopme...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Chromosomes, Human, X
Share to Genes, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Patched Receptors

Share to Pedigree

Share to Receptors, Cell Surface

Share to Sequence Deletion

Source

Identifiers

PMID: 21091464
DOI: 10.1111/j.1399-0004.2010.01590.x

Genes

PTCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21091464-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion in Xp22.11: PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism.PMID 21091464Read ↗

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.Semantic proximity Read ↗

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.Semantic proximity Read ↗

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.Semantic proximity Read ↗

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.Semantic proximity Read ↗

Genetic variants in<i>DDX53</i>contribute to Autism Spectrum Disorder associated with the Xp22.11 locusSemantic proximity Read ↗

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.Semantic proximity Read ↗

Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.Semantic proximity Read ↗

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.Semantic proximity Read ↗

Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Semantic proximity Read ↗

Genome-wide copy number scan identifies disruption of PCDH11X in developmental dyslexia.Semantic proximity Read ↗

Disrupted transcriptional networks regulated by <i>CHD1L</i> during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variantSemantic proximity Read ↗

Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.Semantic proximity Read ↗

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