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Article

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

Human molecular genetics - 1 Sept 2015

Loveday Chey, Tatton-Brown Katrina, Clarke Matthew, Westwood Isaac, Renwick Anthony, Ramsay Emma, Nemeth Andrea, Campbell Jennifer, Joss Shelagh, Gardner McKinlay, Zachariou Anna, Elliott Anna, Ruark Elise, van Montfort Rob, Rahman Nazneen

Abstract excerpt

Overgrowth syndromes comprise a group of heterogeneous disorders characterised by excessive growth parameters, often in association with intellectual disability. To identify new causes of human overgrowth, we have been undertaking trio-based exome sequencing studies in overgrowth patients and their unaffected parents. Prioritisation of functionally relevant genes with multiple unique de novo mutations revealed...

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Identifiers

PMID: 25972378
DOI: 10.1093/hmg/ddv182
PMCID: PMC4527483

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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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