Article
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
Journal of applied genetics - 1 Aug 2017
Pronicka Ewa, Ciara Elżbieta, Halat Paulina, Janiec Agnieszka, Wójcik Marek, Rowińska Elżbieta, Rokicki Dariusz, Płudowski Paweł, Wojciechowska Ewa, Wierzbicka Aldona, Książyk Janusz B, Jacoszek Agnieszka, Konrad Martin, Schlingmann Karl P, Litwin Mieczysław
Abstract excerpt
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition...
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