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

Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.

American journal of medical genetics. Part A - 1 Mar 2010

Swarr Daniel T, Bloom Douglas, Lewis Richard Alan, Elenberg Ewa, Friedman Ellen M, Glotzbach Caron, Wissman Scott D, Shaffer Lisa G, Potocki Lorraine

Abstract excerpt

Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina. In this study, six patients with the Potocki-Shaffer syndrome were identified and evaluated using a multidisciplinary protocol that included assessments...

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 Autistic Disorder

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 11

Share to Craniofacial Abnormalities

Share to Developmental Disabilities

Share to Exostoses, Multiple Hereditary

Share to Hearing Loss, Sensorineural

Source

Identifiers

PMID: 20140962
DOI: 10.1002/ajmg.a.33245

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.PMID 20140962Read ↗

Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.Semantic proximity Read ↗

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.Semantic proximity Read ↗

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomaliesSemantic proximity Read ↗

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.Semantic proximity Read ↗

Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing.Semantic proximity Read ↗

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Semantic proximity Read ↗

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies.Semantic proximity Read ↗

Updated consensus guidelines on the management of Phelan-McDermid syndrome.Semantic proximity Read ↗

Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.Semantic proximity Read ↗

Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported casesSemantic proximity Read ↗

Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.Semantic proximity Read ↗

Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review.Semantic proximity Read ↗

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