Associated Papers
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Loong L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 2017
Select a paper to view details