HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)
- 6 December 1997
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 73 (4) , 416-418
- https://doi.org/10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l
Abstract
A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition “HDR syndrome.” We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chromosome deletion suggests that the putative gene(s) responsible for HDR syndrome is located at a 10pter→p13 region. Am. J. Med. Genet. 73:416–418, 1997.Keywords
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