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Article

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Nature genetics - 1 Jan 2009

Jenkins Zandra A, van Kogelenberg Margriet, Morgan Tim, Jeffs Aaron, Fukuzawa Ryuji, Pearl Esther, Thaller Christina, Hing Anne V, Porteous Mary E, Garcia-Miñaur Sixto, Bohring Axel, Lacombe Didier, Stewart Fiona, Fiskerstrand Torunn, Bindoff Laurence, Berland Siren, Adès Lesley C, Tchan Michel, David Albert, Wilson Louise C, Hennekam Raoul C M, Donnai Dian, Mansour Sahar, Cormier-Daire Valérie, Robertson Stephen P

Abstract excerpt

Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling, cause an X-linked sclerosing bone dysplasia, osteopathia s...

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PMID: 19079258
DOI: 10.1038/ng.270

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19079258-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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