Research Article

A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

Table 2

Loci identified by homozygosity mapping.

ChromosomeSNPs defining the borders of lociGenomic positions (GRCh37/hg19)Loci length (Mb)

1rs7534216–rs2070257179627385–202117002~22.5
3rs7644408–rs227686829891885–40498845~10.6
3rs9876197–rs13094803119099303–123565063~4.5
11rs3852527–rs169063852826603–20552960~17.8
12rs4762315–rs3573597055302–100950371~3.1
15rs2251480–rs112630854167341–63429086~9.2