Maydan G et al. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. Med Genet. 2011; 48(6): 383-9. PMID: 21493957.
Ohba C et al. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy. Neurogenetics. 2014; 15(2): 85-92: PMID: 24253414.
Nakagawa T et al. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. Am J Med Genet A. 2016; 170A(1):183-8. PMID: 26419326.
Brady PD et al. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. Eur J Med Genet. 2014; 57(9): 487-93. PMID: 24852103.
Khayat M et al. A PIGN Mutation Responsible for Multiple Congenital Anomalies–Hypotonia–Seizures Syndrome 1 (MCAHS1) in an Israeli–Arab Family. Am J Med Genet A. 2016; 170A(1): 176–182. PMID: 26364997.
Natario L et al. The Phenotype of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1: Report and Review. Am J Med Genet A. 2015; 167A(9): 2176–2181. PMID: 25920937.
Fleming L et al. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. Am J Med Genet A. 2016;170A(1):77-86. PMID: 26394714.
McInerney-Leo AM et al. Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. Hum Mutat. 2016; 37(7): 695-702. PMID: 27038415.
Jezela-Stanek A et al. Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. Eur J Paediatr Neurol. 2016;20(3):462-73. PMID: 26879448.
Zhu X et al. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med. 2015;17(10):774-81. PMID: 25590979.
Thiffault I et al. Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. PMID: 29096607.
Pronicka E et al. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. J transl Med. 2016;14(1):174. PMID: 27290639.
Alessandri JL et al. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. Eur J Hum Genet. 2018; 26(3): 340–9. PMID: 29330547.
De Giorgis V et al. Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations. Eur J Paediatr Neurol. 2021 33:21-28. PMID: 34051595.
Liu X et al. Gene and Phenotype Expansion of Unexplained Early Infantile Epileptic Encephalopathy. Front Neurol. 2021 PMID: 34163418.