Article

<i>DYRK1A</i> -related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

2019-01-10

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Haploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A mutations. <h4>Methods</h4> A large database of clinical exome sequencing (ES) was queried for de novo DYRK1A mutations and CAKUT/GD phenotypes were chara...

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Literature Corpus work: afd18b50-a085-5125-a82b-269a9b3c3eac
DOI: 10.1101/516856

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