HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

Tomonobu Hasegawa, Yukihiro Hasegawa, Taiji Aso, Shinobu Koto, Toshiro Nagai, Yutaka Tsuchiya, Kyoung Chang Kim, Hirofumi Ohashi, Keiko Wakui, Yoshimitsu Fukushima

研究成果: Article査読

81 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)416-418
ページ数3
ジャーナルAmerican journal of medical genetics
73
4
DOI
出版ステータスPublished - 1997 12 31

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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