Endocrine Abstracts

Hypophosphatemic rickets is a genetically heterogeneous disorder of defective renal phosphate transport and vitamin D metabolism with an X-linked dominant (XLHR), autosomal-dominant (ADHR) or autosomal-recessive (ARHR) pattern of inheritance. Germline mutations in the PHEX gene are associated with the X-linked form which affects both males and females. The autosomal dominant form is characterised by mutations in the FGF23 gene and the autosomal recessive form by ...