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GATA3mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome

✍ Scribed by Zi-Yang Zhu,Qiao-Li Zhou,Shi-Ning Ni,Wei Gu


Book ID
126367489
Publisher
SP Children’s Hospital, Zhejiang University School of Medicine
Year
2014
Tongue
English
Weight
678 KB
Volume
10
Category
Article
ISSN
1708-8569

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HDR syndrome (hypoparathyroidism, sensor
✍ Hasegawa, Tomonobu; Hasegawa, Yukihiro; Aso, Taiji; Koto, Shinobu; Nagai, Toshir 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 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