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

标题
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
作者
关键词
Idiopathic infantile hypercalcemia, Vitamin D hypersensitivity, Biallelic mutations, <em class=EmphasisTypeItalic >CYP24A1</em>, <em class=EmphasisTypeItalic >SLC34A1</em>, Adults
出版物
JOURNAL OF APPLIED GENETICS
Volume 58, Issue 3, Pages 349-353
出版商
Springer Nature
发表日期
2017-05-03
DOI
10.1007/s13353-017-0397-2

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