Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

doi:10.1111/cge.14015

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Article

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.

Clinical genetics - 1 Oct 2021

Uguen Kévin, Krysiak Kilannin, Audebert-Bellanger Séverine, Redon Sylvia, Benech Caroline, Viora-Dupont Eléonore, Tran Mau-Them Frederic, Rondeau Sophie, Elsharkawi Ibrahim, Granadillo Jorge L, Neidich Julie, Soares Celia Azevedo, Tkachenko Natáliya, M Amudhavalli Shivarajan, Engleman Kendra, Boland Anne, Deleuze Jean-François, Bezieau Stéphane, Odent Sylvie, Toutain Annick, Bonneau Dominique, Gilbert-Dussardier Brigitte, Faivre Laurence, Rio Marlène, Le Marechal Cedric, Ferec Claude, Repnikova Elena, Cao Yang

Abstract excerpt

13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no...

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PMID: 34164801
DOI: 10.1111/cge.14015

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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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