... cause the most common form of hereditary hypophosphatemic rickets, which is known as X-linked hypophosphatemic rickets. These mutations inactivate the PHEX enzyme, leaving it ...

... in the VDR gene cause vitamin D-dependent rickets type 2A (VDDR2A), also known as hereditary vitamin D-resistant rickets (HVDRR). This disorder of bone development is characterized ...

... to cause a rare form of hereditary hypophosphatemic rickets known as autosomal dominant hypophosphatemic rickets. These mutations change single protein building blocks (amino ...

... have been found to cause vitamin D-dependent rickets type 1A (VDDR1A), also known as vitamin D ... Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A. PLoS One. 2015 Jul 1;10( ...

... have been found to cause vitamin D-dependent rickets type 1B (VDDR1B). This disorder of bone development ... G, Kottler ML, Feillet F. Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition ...

... Condition MedlinePlus Genetics provides information about Hereditary hypophosphatemic rickets More About This Health Condition A normal variation ( ... ENPP1 PubMed ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1; ENPP1 HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARHR2 NCBI Gene ClinVar Bacci ...

... Condition MedlinePlus Genetics provides information about Hereditary hypophosphatemic rickets More About This Health Condition chloride channel 5 ...

... 2, develop problems with kidney function and hypophosphatemic rickets, a bone disorder that often causes bone pain ...

... or colobomas), underdeveloped bones, and a disorder called rickets that leads to softening and weakening of the ...