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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Human Genetics • Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509812/
https://www.ncbi.nlm.nih.gov/pubmed/28470390
http://dx.doi.org/10.1007/s13353-017-0397-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509812/
https://www.ncbi.nlm.nih.gov/pubmed/28470390
http://dx.doi.org/10.1007/s13353-017-0397-2

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