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

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 Wes...

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Udgivet i:J Appl Genet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2017
Fag:
Human Genetics • Short Communication
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509812/
https://ncbi.nlm.nih.gov/pubmed/28470390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-017-0397-2
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