Article
Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies.
Human genetics - 24 Feb 2026
Jacquinet Adeline, Flasse Lydie, Dohet Manon, Vanhaeren Romane, Pendeville Hélène, Saunders Carol, Lehman Anna, Pienkowski Catherine, Morcel Karine, Guerrier Daniel, Bours Vincent, Peers Bernard
Abstract excerpt
The underlying cause for renal and uterine agenesis remains unknown in many cases, whereas recurrence in some families strongly suggests the involvement of genetic factors. Here, we identify 5 affected individuals from 3 families with phenotypes including bilateral or unilateral renal agenesis/hypoplasia, along with variable congenital uterine anomalies and costovertebral defects associated with heterozygous...
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