Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets

Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type

(2011) Marcos Morey et al.   BMC Medical Genetics

Three Novel Mutations in the PHEX Gene in Chinese Subjects with Hypophosphatemic Rickets Extends Genotypic Variability

(2011) Tjin-Shing Jap et al.   CALCIFIED TISSUE INTERNATIONAL

Novel PHEX Nonsense Mutation in a Patient with X-Linked Hypophosphatemic Rickets and Review of Current Therapeutic Regimens

(2011) T. Kienitz et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

The expanding family of hypophosphatemic syndromes

(2011) Thomas O. Carpenter   JOURNAL OF BONE AND MINERAL METABOLISM

A clinician's guide to X-linked hypophosphatemia

(2011) Thomas O Carpenter et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

(2010) Varda Levy-Litan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

(2010) Bettina Lorenz-Depiereux et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotype Presentation of Hypophosphatemic Rickets in Adults

(2010) Signe S. Beck-Nielsen et al.   CALCIFIED TISSUE INTERNATIONAL

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

(2010) Mary D. Ruppe et al.   CLINICAL ENDOCRINOLOGY

A novel nonsense mutation in the DMP1 gene in a Japanese family with autosomal recessive hypophosphatemic rickets

(2010) Ryusuke Koshida et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status

(2010) Thomas O. Carpenter et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Identification of a novel dentin matrix protein-1 (DMP-1) mutation and dental anomalies in a kindred with autosomal recessive hypophosphatemia

(2009) Serap Turan et al.   BONE

Mutational Analysis of the PHEX Gene: Novel Point Mutations and Detection of Large Deletions by MLPA in Patients with X-Linked Hypophosphatemic Rickets

(2009) S. Clausmeyer et al.   CALCIFIED TISSUE INTERNATIONAL

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets

(2009) Céline Gaucher et al.   HUMAN GENETICS

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets

(2008) Shoji Ichikawa et al.   BONE

Incidence and prevalence of nutritional and hereditary rickets in southern Denmark

(2008) Signe Sparre Beck-Nielsen et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation

(2008) Murat Bastepe et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS