Associated Papers
Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.
Weng WC et al.
European Journal of Human Genetics : Ejhg, 2025
Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity.
Boussion S et al.
Clinical Genetics, 2025
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Pelet A et al.
Human Molecular Genetics, 2019
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