@entity15396 is the gene defective in @entity12145 . In this study, analysis of @entity15396 revealed mutations in 22 @entity12146 @entity1 , including 16 of 28 @entity1 in whom all 22 @entity15396 exons were studied. In 13 @entity1 , in whom no @entity15396 mutation had been previously detected in 17 exons, the remaining 5 @entity15396 exons were analyzed and mutations found in 6 @entity1 . Twenty different mutations were identified, including 16 mutations predicted to truncate @entity15396 missense mutations. Phenotype analysis was performed on 31 @entity12146 @entity1 with @entity15396 mutations, including the 22 @entity1 identified in this study, 9 @entity1 previously identified, and affected family members. No correlation was found between the severity of disease and the type or location of the mutation. However, among @entity1 with a family history of @entity12146 , there was a trend toward more severe @entity1141 in @entity1 with truncating mutations. Family members in more recent generations had a milder phenotype. Postpubertal males had a more severe dental phenotype. In conclusion, although identifying mutations in @entity15396 may have limited prognostic value, genetic testing may be useful for the early identification and treatment of affected individuals. Furthermore, this study suggests that other genes and environmental factors affect the severity of @entity12146 .

Mutational analysis and genotype-phenotype correlation of the @entity15396 gene in XXXX .

@entity12145 :: ('MESH:D053098', 'Disease') :: ['X-linked hypophosphatemic rickets'] @entity1 :: ('9606', 'Species') :: ['patients'] @entity15396 :: ('5251', 'Gene') :: ['PHEX', 'PHEX and 4'] @entity12146 :: ('MESH:D063730', 'Disease') :: ['hypophosphatemic rickets'] @entity1141 :: ('MESH:C535662', 'Disease') :: ['skeletal disease']
@entity12145 :: (MESH:D053098,Disease) :: ['X-linked hypophosphatemic rickets']
