Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.

@article{Heath1993GeneticLA,
  title={Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.},
  author={Helen F Heath and Charles E. Jackson and B. Otterud and Mark F. Leppert},
  journal={American journal of human genetics},
  year={1993},
  volume={53 1},
  pages={
          193-200
        }
}
Familial benign hypercalcemia (FBH, or hypocalciuric hypercalcemia) is characterized by inheritance, in an autosomal dominant pattern, of lifelong hypercalcemia without hypercalciuria, which is often mistaken for classical primary hyperparathyroidism. Recently, the FBH trait was linked, in four families, to chromosome 3q. We report genetic linkage analysis in 140 persons from five additional families having FBH (65 affected, 67 unaffected, and 8 unclassifiable). In four families, FBH mapped to… CONTINUE READING

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