PIGA

Publications

Johnston JJ, et al. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet. 2012; 90(2):295–300. PMID: 22305531.

Van der Crabben SN, et al. Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. Am J Med Genet A. 2014; 164A (1): 29-35 PMID:24259184.

Mitsuhiro Kato, et al. PIGA mutations cause early-onset epileptic encephalopathies and distinctive Features. Neurology. 2014;82(18):1587-96 PMID: 24706016.

Maja Tarailo-Graovac et al. The genotypic and phenotypic spectrum of PIGA deficiency. Orphanet J Tare Dis. 2015; 10:23 PMID: 25885527.

A Bayat, et al. Lessons learned from 40 novel PIGA patients and a review of the literature. Epilepsia. 2020; 61(6):1142-1155 PMID: 32452540.