Condition: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
rs1567871748 in
PGAP3 gene and
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.
PMID 24439110 2014 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
PMID 27120253 2016 Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.