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.
|ジャーナル||American journal of medical genetics|
|出版ステータス||Published - 1997 12 31|
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