Article

Heterozygous HMGB1 variants and neurodevelopmental disorder: phenotypic and allelic spectrum

2026-08-10

Abstract excerpt

<title>Abstract</title> <p> Heterozygous loss-of-function variants in <italic>HMGB1</italic> cause a neurodevelopmental disorder overlapping 13q12.3 microdeletion syndrome, whereas acidic-tail frameshifts cause brachyphalangy-polydactyly-tibial aplasia/hypoplasia syndrome (BPTAS). We sought to define the phenotypic and allelic spectrum and distinguish these disorders. Through international collaboration, we as...

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Literature Corpus work: 927cf66b-310e-5818-a97a-c0e2c1a5f611
DOI: 10.21203/rs.3.rs-10485683/v1

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