Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

doi:10.1002/ajmg.b.30493

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

Community

Back to search

Article

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Jun 2007

Buxbaum Joseph D, Cai Guiqing, Chaste Pauline, Nygren Gudrun, Goldsmith Juliet, Reichert Jennifer, Anckarsäter Henrik, Rastam Maria, Smith Christopher J, Silverman Jeremy M, Hollander Eric, Leboyer Marion, Gillberg Christopher, Verloes Alain, Betancur Catalina

Abstract excerpt

Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. In addition, PTEN mutations have been described in a few patients with autism spectrum disorders (ASDs) and macrocephaly. In this study, we screened the PTEN gene for mutations and deletions in 88 patients with ASDs and...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Asparagine

Share to Aspartic Acid

Share to Autistic Disorder

Share to Craniofacial Abnormalities

Share to Introns

Share to PTEN Phosphohydrolase

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 17427195
DOI: 10.1002/ajmg.b.30493
PMCID: PMC3381648

Genes

PTEN

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

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.PMID 17427195Read ↗

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.Semantic proximity Read ↗

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.Semantic proximity Read ↗

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.Semantic proximity Read ↗

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.Semantic proximity Read ↗

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.Semantic proximity Read ↗

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.Semantic proximity Read ↗

Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.Semantic proximity Read ↗

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.Semantic proximity Read ↗

Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.Semantic proximity Read ↗

Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model.Semantic proximity Read ↗

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.Semantic proximity Read ↗

PTEN Hamartoma Tumor Syndrome: A Clinical OverviewSemantic proximity Read ↗

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