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Article

De novo variants in MPP5 cause global developmental delay and behavioral changes.

Human molecular genetics - 18 Dec 2020

Sterling Noelle, Duncan Anna R, Park Raehee, Koolen David A, Shi Jiahai, Cho Seo-Hee, Benke Paul J, Grant Patricia E, Genetti Casie A, VanNoy Grace E, Juusola Jane, McWalter Kirsty, Parboosingh Jillian S, Lamont Ryan E, Bernier Francois P, Smith Christopher, Harris David J, Stegmann Alexander P A, Innes A Micheil, Kim Seonhee, Agrawal Pankaj B

Abstract excerpt

Membrane Protein Palmitoylated 5 (MPP5) is a highly conserved apical complex protein essential for cell polarity, fate and survival. Defects in cell polarity are associated with neurologic disorders including autism and microcephaly. MPP5 is essential for neurogenesis in animal models, but human variants leading to neurologic impairment have not been described. We identified three patients with heterozygous MPP5...

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Identifiers

PMID: 33073849
DOI: 10.1093/hmg/ddaa224
PMCID: PMC7906781

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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