Article

Variants in<i>NR6A1</i>as a cause for congenital renal, vertebral and uterine anomalies

2025-01-10

Abstract excerpt

<h4>ABSTRACT</h4> 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...

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Literature Corpus work: 5b9e6654-3e3f-599e-abbe-cd6f55b1cc40
DOI: 10.1101/2025.01.08.24319478

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