Article
Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
The Journal of clinical endocrinology and metabolism - 1 Nov 2014
Rajagopal Abbhirami, Braslavsky Débora, Lu James T, Kleppe Soledad, Clément Florencia, Cassinelli Hamilton, Liu David S, Liern Jose Miguel, Vallejo Graciela, Bergadá Ignacio, Gibbs Richard A, Campeau Phillipe M, Lee Brendan H
Abstract excerpt
CONTEXT: Two Argentinean siblings (a boy and a girl) from a nonconsanguineous family presented with hypercalcemia, hypercalciuria, hypophosphatemia, low parathyroid hormone (PTH), and nephrocalcinosis. OBJECTIVE: The goal of this study was to identify genetic causes of the clinical findings in the two siblings. DESIGN: Whole exome sequencing was performed to identify disease-causing mutations in the youngest...
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