A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

doi:10.1056/NEJMoa2033911

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Article

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

The New England journal of medicine - 30 Sept 2021

Chai Guoliang, Szenker-Ravi Emmanuelle, Chung Changuk, Li Zhen, Wang Lu, Khatoo Muznah, Marshall Trevor, Jiang Nan, Yang Xiaoxu, McEvoy-Venneri Jennifer, Stanley Valentina, Anzenberg Paula, Lang Nhi, Wazny Vanessa, Yu Jia, Virshup David M, Nygaard Rie, Mancia Filippo, Merdzanic Rijad, Toralles Maria B P, Pitanga Paula M L, Puri Ratna D, Hernan Rebecca, Chung Wendy K, Bertoli-Avella Aida M, Al-Sannaa Nouriya, Zaki Maha S, Willert Karl, Reversade Bruno, Gleeson Joseph G

Abstract excerpt

BACKGROUND: Structural birth defects occur in approximately 3% of live births; most such defects lack defined genetic or environmental causes. Despite advances in surgical approaches, pharmacologic prevention remains largely out of reach. METHODS: We queried worldwide databases of 20,248 families that included children with neurodevelopmental disorders and that were enriched for parental consanguinity....

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Identifiers

PMID: 34587386
DOI: 10.1056/NEJMoa2033911
PMCID: PMC9017221

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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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