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Article

Clinical delineation of SETBP1 haploinsufficiency disorder.

European journal of human genetics : EJHG - 1 Aug 2021

Jansen Nadieh A, Braden Ruth O, Srivastava Siddharth, Otness Erin F, Lesca Gaetan, Rossi Massimiliano, Nizon Mathilde, Bernier Raphael A, Quelin Chloé, van Haeringen Arie, Kleefstra Tjitske, Wong Maggie M K, Whalen Sandra, Fisher Simon E, Morgan Angela T, van Bon Bregje W

Abstract excerpt

SETBP1 haploinsufficiency disorder (MIM#616078) is caused by haploinsufficiency of SETBP1 on chromosome 18q12.3, but there has not yet been any systematic evaluation of the major features of this monogenic syndrome, assessing penetrance and expressivity. We describe the first comprehensive study to delineate the associated clinical phenotype, with findings from 34 individuals, including 24 novel cases, all of...

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Identifiers

PMID: 33867525
DOI: 10.1038/s41431-021-00888-9
PMCID: PMC8385049

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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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