Condition: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31


rs1554129091 in PURA gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 PMID 25439098 2014 Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

PMID 29097605 2018 PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

PMID 25342064 2014 Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

PMID 27148565 2015 De novo mutations in PURA are associated with hypotonia and developmental delay.