Variant: rs137852216 

    present in Gene: AMER1
    present in Chromosome: X
    Position on Chromosome: 64192230
    Alleles of this Variant: G/A

rs137852216 in AMER1 gene and Osteopathia striata cranial sclerosis PMID 27369646 2017 First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.

PMID 19079258 2009 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

PMID 22716240 2012 WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.