Phosphate is critical for the maintenance of skeletal integrity, is a necessary component of
important biomolecules, and is central to signal transduction and cell metabolism. It is …

Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease
presentations are often undifferentiated at birth. More than 3500 monogenic diseases have …

Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable
to single-gene mutations at more than 1000 loci. Traditional methods yield molecular …

Background Genetic disorders and congenital anomalies are the leading causes of infant
mortality. Diagnosis of most genetic diseases in neonatal and paediatric intensive care units (…

Mitochondrial diseases are notoriously difficult to diagnose due to extreme locus and allelic
heterogeneity, with both nuclear and mitochondrial genomes potentially liable. Using exome …

Autosomal dominant hypophosphatemic rickets (ADHR) is unique among the disorders
involving Fibroblast growth factor 23 (FGF23) because individuals with R176Q/W and R179Q/W …

While the cost of whole genome sequencing (WGS) is approaching the realm of routine
medical tests, it remains too tardy to help guide the management of many acute medical …

… Address correspondence and reprint requests to Emilie Farrow, MD, Service de
Chirurgie Maxillo-Faciale et Stomatologie Hôpital Roger Salengro, Bd du Professeur Emile …

Mice with constitutive activation of parathyroid hormone (PTH) receptor signaling in osteocytes
(DMP1-caPTHR1 transgenic mice) exhibit increased bone mass and remodeling, two of …

Fibroblast growth factor-23 (FGF23), a hormone central to phosphate and vitamin D
metabolism, reduces renal absorption of phosphate by downregulating the sodium-phosphate …