PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Pelet, Anna; Skopova, Vaclava; Steuerwald, Ulrike; Baresova, Veronika; Zarhrate, Mohammed; Plaza, Jean-Marc; Hnizda, Ales; Krijt, Matyas; Souckova, Olga; Wibrand, Flemming; Andorsdóttir, Guðrið; Joensen, Fróði; Sedlak, David; Bleyer, Anthony J; Kmoch, Stanislav; Lyonnet, Stanislas; Zikanova, Marie.
Hum Mol Genet; 2019 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-31600779