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Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis

✍ Scribed by Yuji Kato; Naoki Wada; Atsushi Numata; Hidehiro Kakizaki

Book ID
108977443
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
113 KB
Volume
14
Category
Article
ISSN
0919-8172

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HDR syndrome (hypoparathyroidism, sensor
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)
✍ Hasegawa, Tomonobu; Hasegawa, Yukihiro; Aso, Taiji; Koto, Shinobu; Nagai, Toshir πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 11 KB πŸ‘ 1 views

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