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 chr
β¦ LIBER β¦
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication
β Scribed by L Bernardini; L Sinibaldi; A Capalbo; I Bottillo; B Mancuso; B Torres; A Novelli; MC Digilio; B Dallapiccola
- Book ID
- 110888779
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 248 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0009-9163
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