The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a
grouping of related genetic disorders that has been linked to germline mutations in the …

Autism spectrum disorder (ASD) is defined by impaired social interaction and
communication accompanied by stereotyped behaviors and restricted interests. Although …

Since the publication of the seminal work on the histology-based classification of vascular
anomalies by Mulliken and Glowacki in 1982 and the subsequent adoption of an expanded …

Abstract The ClinGen PTEN Expert Panel was organized by the ClinGen Hereditary Cancer
Clinical Domain Working Group to assemble clinicians, researchers, and molecular …

Background P hosphatase and ten sin homologue (PTEN) is a cancer suppressor gene.
Constitutional mutations affecting this gene are associated with several conditions …

Germline mutations in PTEN, the gene that encodes phosphatase and tensin homolog, have
been identified in up to 20% of children with autism spectrum disorder (ASD) and …

PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important
regulator of ongoing neural connectivity and plasticity. The present study examined …

Phosphatase and tensin homolog (PTEN) is a classical tumor suppressor that antagonizes
phosphatidylinositol 3-phosphate kinase (PI3K)/AKT signaling. Although there is a strong …

Objective It is recognised that 5%–10% of children with macrocephaly and autism spectrum
disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in …

PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant
condition associated with intellectual disability, overgrowth, and tumor predisposition …