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Article

Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.

Human mutation - 1 Jul 2018

Stellacci Emilia, Steindl Katharina, Joset Pascal, Mercurio Laura, Anselmi Massimiliano, Cecchetti Serena, Gogoll Laura, Zweier Markus, Hackenberg Annette, Bocchinfuso Gianfranco, Stella Lorenzo, Tartaglia Marco, Rauch Anita

Abstract excerpt

Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transcriptional repressor controlling energetic metabolism and developmental programs. ZBTB20 maps in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29737001
DOI: 10.1002/humu.23546

Genes

ZBTB20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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