A family is presented in which the mother has transmitted primary hypoparathyroidism with early onset and serum PTH (44-68) and C terminal deficiency to her two sons. Restriction enzyme analysis of allelic variation at the PTH gene locus revealed that the disease and the PTH alleles segregate independently. It is therefore concluded that the primary molecular defect leading to this form of hypoparathyroidism is not located within the PTH gene itself.
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