present in Gene: PHEX
present in Chromosome: X
Position on Chromosome: 22047116
Alleles of this Variant: G/A
rs137853269 in
PHEX gene and
Hypophosphatemic Rickets, X-Linked Dominant
PMID 9768646 1998 A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.
PMID 9097956 1997 Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
PMID 9106524 1997 Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.
PMID 9199930 1997 Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
PMID 9768674 1998 Mutational analysis of PHEX gene in X-linked hypophosphatemia.
PMID 10439971 1999 Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.
PMID 11004247 2000 Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
PMID 10737991 2000 Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.