Result: A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2021

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

Genes. - 12, 6 (2021) , 879, ISSN: 2073-4425

*DOI*:

10.3390/genes12060879

*Result*: A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome