A Homozygous Deletion of Exon 5 of KYNU 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 HAAO (3-Hydroxyanthranilate 3,4-dioxygenase), NADSYN1 (NAD+ Synthetase-1) and KYNU (Kynureninase) have been identified in a handful of affected individuals. All three ge...

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Detalles Bibliográficos
Autores principales: Schüle, Isabel, Berger, Urs, Matysiak, Uta, Ruzaike, Gunda, Stiller, Brigitte, Pohl, Martin, Spiekerkoetter, Ute, Lausch, Ekkehart, Grünert, Sarah C., Schmidts, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227568/
https://www.ncbi.nlm.nih.gov/pubmed/34200361
http://dx.doi.org/10.3390/genes12060879

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227568/
https://www.ncbi.nlm.nih.gov/pubmed/34200361
http://dx.doi.org/10.3390/genes12060879

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