Rickets is a disease of the growing child arising from alterations in calcium and phosphate
homeostasis resulting in impaired apoptosis of hypertrophic chondrocytes in the growth …

A number of genes that cause inherited kidney disorders reside on the X chromosome.
Given that males have only a single active X chromosome, these disorders clinically …

Abstract X‐linked hypophosphatemia (XLH), the most common form of hereditary
hypophosphatemia, is caused by disrupting variants in the PHEX gene, located on the X …

Nutritional vitamin D deficiency is the most frequent cause of rickets followed by genetic
causes, that include entities like classic hypophosphatemic rickets (FGF23 related), Dent …

X-linked hypophosphatemic rickets (XLH) is a disease characterized by impaired bone
mineralization, and its dental features include gingival abscesses and large pulp spaces …

Context Synonymous mutations are usually nonpathogenic. Objective We report here a
family with X-linked hypophosphatemia (XLH) due to a novel synonymous PHEX variant …

Purpose Patients with hereditary hypophosphatemic rickets are short and disproportionate
and very little information is available on segmental growth, but the body disproportion at …

Twenty-five years ago, a pathogenic variant of the phosphate-regulating endopeptidase
homolog X-linked (PHEX) gene was identified as the cause of X-linked hypophosphatemic …

Background Hypophosphatemic rickets (HR) is a rare genetic disorder associated with renal
phosphate wasting and characterized by bone defects. Inactivating mutations in the …

X-linked hypophosphatemia (XLH) or vitamin D-resistant rickets (MIM# 307800), is a
monogenic disorder with X-linked inheritance. It is caused by mutations present in the …