A Homozygous Deletion of Exon 5 of <i>KYNU</i> Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

A Homozygous Deletion of Exon 5 of <i>KYNU</i> Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

Vertebral, Cardiac, Renal and Limb Defect Syndrome (VCRL), is a very rare congenital malformation syndrome. Pathogenic variants in <i>HAAO</i> (3-Hydroxyanthranilate 3,4-dioxygenase), <i>NADSYN1</i> (NAD+ Synthetase-1) and <i>KYNU</i> (Kynureninase) have been iden...

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Bibliographic Details
Main Authors: Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
VCRL
Catel–Manzke
<i>KYNU</i>
CAKUT
renal hypodysplasia
hypoplastic left heart
Online Access:https://www.mdpi.com/2073-4425/12/6/879

Internet

https://www.mdpi.com/2073-4425/12/6/879

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