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Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency ricketsHanan Tosson
Pediatric Endocrinology Clinic, Morgantown, West Virginia 26505, USA
J Clin Endocrinol Metab 97:E796-801. 2012..This is a case report of a proband and his family presenting with apparent autosomal dominant 25-hydroxylase enzyme deficiency and bone disease...
