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Growth Hormone & IGF Research, ISSN 1096-6374, 10/2017, Volume 36, pp. 11 - 15
Twenty-five to 40% of patients with well-controlled X-linked hypophosphatemic rickets (XLHR) have a final height under − 2 SDS. Previous studies have shown... 
Growth hormone | X-linked hypophosphatemic rickets (XLHR) | VITAMIN-D | FINAL HEIGHT | BODY PROPORTIONS | DISORDERS | D-RESISTANT RICKETS | CELL BIOLOGY | DENSITY | THERAPY | METABOLISM | ENDOCRINOLOGY & METABOLISM | MICE | CALCITRIOL
Journal Article
Endocrine Connections, ISSN 2049-3614, 11/2017, Volume 6, Issue 8, pp. 566 - 573
Background: X-linked hypophosphatemic rickets (XLHR) is due to mutations in PHEX leading to unregulated production of FGF23 and hypophosphatemia. XLHR is... 
X-linked Hypophosphatemic rickets | Genu varum | Genu valgum | Hemiepiphysiodesis | Osteotomy | PHEX | hemiepiphysiodesis | VITAMIN-D | genu valgum | EXTERNAL FIXATION | MANAGEMENT | DEFORMITY CORRECTION | genu varum | CHILDREN | PHOSPHATE | osteotomy | GROWTH | ENDOCRINOLOGY & METABOLISM | X-linked hypophosphatemic rickets
Journal Article
Journal Article
International Journal of Molecular Medicine, ISSN 1107-3756, 04/2018, Volume 41, Issue 4, pp. 2012 - 2020
Journal Article
Journal Article
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 03/2016, Volume 61, Issue 3, pp. 223 - 227
X-linked dominant hypophosphatemic rickets (XLHR), is characterized mainly by renal phosphate wasting with hypophosphatemia, short stature and abnormal bone... 
PHOSPHATE | GENE | X-LINKED HYPOPHOSPHATEMIA | GENETICS & HEREDITY | Humans | Karyotyping | PHEX Phosphate Regulating Neutral Endopeptidase - genetics | Male | Mosaicism | Mutation | Rickets, Hypophosphatemic - genetics | Child | Real-Time Polymerase Chain Reaction
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 04/2012, Volume 27, Issue 4, pp. 876 - 890
Bone diseases such as rickets and osteoporosis cause significant reduction in bone quantity and quality, which leads to mechanical abnormalities. However, the... 
NANOMECHANICAL IMAGING | N‐ETHYL‐N‐NITROSUREA | IN SITU SYNCHROTRON SMALL ANGLE X‐RAY SCATTERING | X‐LINKED HYPOPHOSPHATEMIC RICKETS | BONE MATRIX PROPERTIES | MINERALIZATION | mineralization | X-linked hypophosphatemic rickets | bone matrix properties | N-ethyl-N-nitrosurea | in situ synchrotron small angle X-ray scattering | nanomechanical imaging | CORTICAL BONE | ELASTIC PROPERTIES | PEX GENE | X-LINKED HYPOPHOSPHATEMIC RICKETS | MODEL | MECHANICAL-PROPERTIES | DEFORMATION | HYPOPHOSPHATEMIA | N-ETHYL-N-NITROSUREA | IN SITU SYNCHROTRON SMALL ANGLE X-RAY SCATTERING | DENSITY DISTRIBUTION | MUTATION | ENDOCRINOLOGY & METABOLISM | COLLAGEN FIBRILS | Molecular Sequence Data | Stress, Mechanical | Male | Mutation, Missense - genetics | Synchrotrons | Bone and Bones - diagnostic imaging | PHEX Phosphate Regulating Neutral Endopeptidase - genetics | Ethylnitrosourea | Familial Hypophosphatemic Rickets - pathology | Female | Genetic Diseases, X-Linked | Amino Acid Sequence | Nanostructures - ultrastructure | Tensile Strength - physiology | Familial Hypophosphatemic Rickets - physiopathology | Mice, Inbred C57BL | Calcification, Physiologic - physiology | Scattering, Small Angle | Biomechanical Phenomena - physiology | Genotype | Radiography | Bone and Bones - physiopathology | Phenotype | Animals | X-Rays | Bone and Bones - ultrastructure | Mice | PHEX Phosphate Regulating Neutral Endopeptidase - chemistry | Electrons | Animal models | Fibrils | Periodicity | X chromosome | Mechanical properties | Homology | Bone diseases | imaging | Ionizing radiation | X-ray scattering | Ethyl nitrosourea | Rickets | Loading | Mineralization | endopeptidase | Phosphate | Hypophosphatemia | Mutation | Bone imaging
Journal Article
Journal of Investigative Medicine High Impact Case Reports, ISSN 2324-7096, 8/2015, Volume 3, Issue 3, p. 2324709615598167
Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with... 
PHEX gene | X-linked hypophosphatemic rickets | Genetic testing | Splice-site mutation
Journal Article