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Article

Bringing everyone to the table - findings from the 2018 Phelan-McDermid Syndrome Foundation International Conference.

Orphanet journal of rare diseases - 16 Jun 2020

Goodspeed Kimberly, Bliss Geraldine, Linnehan Diane

Abstract excerpt

BACKGROUND: Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder characterized by global developmental delay, autism spectrum disorder, and numerous systemic complications including seizures, gastrointestinal dysfunction, and renal anomalies. The Phelan-McDermid Syndrome Foundation (PMSF) was created to improve the quality of life of people affected by PMS worldwide by supporting families,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32546186
DOI: 10.1186/s13023-020-01389-6
PMCID: PMC7298935

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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.

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