Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Familial hypocalciuric hypercalcemia type 3 is an autosomal dominant disorder caused by mutations of the AP2S1 gene.
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McMurtry CT et al. (1992) Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. 
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| 2. |
Nesbit MA et al. (2013) Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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| 3. |
Hannan FM et al. (2010) Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
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| 4. |
Trump D et al. (1995) Linkage studies in a kindred from Oklahoma, with familial benign (hypocalciuric) hypercalcaemia (FBH) and developmental elevations in serum parathyroid hormone levels, indicate a third locus for FBH.
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| 5. |
Lloyd SE et al. (1999) Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13.
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| 6. |
OMIM.ORG article Omim 600740
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| 7. |
Orphanet article Orphanet ID 101050
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