Article

Neurogenic defects underlie functional bladder outflow tract obstruction associated with biallelic variants in<i>LRIG2</i>

2022-12-06

Abstract excerpt

<h4>ABSTRACT</h4> Urinary tract malformations account for half of all children with kidney failure, and some have defined monogenic causes. One such disorder is urofacial, or Ochoa, syndrome (UFS), an autosomal recessive disease featuring a dyssynergic bladder with detrusor smooth muscle contracting against an undilated outflow tract. Incomplete voiding predisposes to urosepsis and kidney failure. Half of individu...

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Literature Corpus work: 85d0d064-95d1-578d-87a0-eb1d36c208b7
DOI: 10.1101/2022.12.06.22283097

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