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Article

RFX6 regulates human intestinal patterning and function upstream of PDX1.

Development (Cambridge, England) - 1 May 2024

Sanchez J Guillermo, Rankin Scott, Paul Emily, McCauley Heather A, Kechele Daniel O, Enriquez Jacob R, Jones Nana-Hawa, Greeley Siri A W, Letourneau-Frieberg Lisa, Zorn Aaron M, Krishnamurthy Mansa, Wells James M

Abstract excerpt

The gastrointestinal (GI) tract is complex and consists of multiple organs with unique functions. Rare gene variants can cause congenital malformations of the human GI tract, although the molecular basis of these has been poorly studied. We identified a patient with compound-heterozygous variants in RFX6 presenting with duodenal malrotation and atresia, implicating RFX6 in development of the proximal intestine....

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Identifiers

PMID: 38587174
DOI: 10.1242/dev.202529
PMCID: PMC11128285

Genes

PDX1

Provenance

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RFX6 regulates human intestinal patterning and function upstream of PDX1.PMID 38587174Read ↗

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