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Article

Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.

European journal of human genetics : EJHG - 1 Jun 2021

Zhang Yanjia Jason, Jimenez Lissette, Azova Svetlana, Kremen Jessica, Chan Yee-Ming, Elhusseiny Abdelrahman M, Saeed Hajirah, Goldsmith Jeffrey, Al-Ibraheemi Alyaa, O'Connell Amy E, Kovbasnjuk Olga, Rodan Lance, Agrawal Pankaj B, Thiagarajah Jay R

Abstract excerpt

WNT2B is a member of the Wnt family, a group of signal transduction proteins involved in embryologic development and stem cell renewal and maintenance. We recently reported homozygous nonsense variants in WNT2B in three individuals with severe, neonatal-onset diarrhea, and intestinal failure. Here we present a fourth case, from a separate family, with neonatal diarrhea associated with novel compound heterozygous...

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Identifiers

PMID: 33526876
DOI: 10.1038/s41431-021-00812-1
PMCID: PMC8187348

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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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