Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia
- 8 October 1992
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 327 (15) , 1069-1074
- https://doi.org/10.1056/nejm199210083271506
Abstract
FAMILIAL hypoparathyroidism is an unusual condition that can present at any time from early infancy until well into adulthood.1 2 3 4 It can be inherited in an autosomal dominant,3 , 4 autosomal recessive,5 or X-linked recessive6 , 7 pattern. Its presence has been associated with other congenital abnormalities, such as absence of the thymus (DiGeorge's syndrome).8Keywords
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