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.
|Number of pages||3|
|Journal||American journal of medical genetics|
|Publication status||Published - 1997 Dec 31|
- HDR syndrome
- Renal dysplasia
- Sensorineural deafness
ASJC Scopus subject areas