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Article

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.

European journal of human genetics : EJHG - 1 Nov 2021

Haag Natja, Tan Ene-Choo, Begemann Matthias, Buschmann Lars, Kraft Florian, Holschbach Petra, Lai Angeline H M, Brett Maggie, Mochida Ganeshwaran H, DiTroia Stephanie, Pais Lynn, Neil Jennifer E, Al-Saffar Muna, Bastaki Laila, Walsh Christopher A, Kurth Ingo, Knopp Cordula

Abstract excerpt

Heterozygous missense variants in the WD repeat domain 11 (WDR11) gene are associated with hypogonadotropic hypogonadism in humans. In contrast, knockout of both alleles of Wdr11 in mice results in a more severe phenotype with growth and developmental delay, features of holoprosencephaly, heart defects and reproductive disorders. Similar developmental defects known to be associated with aberrant hedgehog...

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Identifiers

PMID: 34413497
DOI: 10.1038/s41431-021-00943-5
PMCID: PMC8560748

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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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