describe monozygotic twins discordant for the syndrome with kidney dysplasia. A postzygotic mutation is proposed as the cause of this autosomal dominant syndrome in this case.
✦ LIBER ✦
Diffuse cystic renal dysplasia: Nonsyndromal familial case
✍ Scribed by Sase, Masakatsu; Tsukahara, Masato; Oga, Atsushi; Kaneko, Noriko; Nakata, Masahiko; Saito, Tsuyoshi; Kato, Hiroshi
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 28 KB
- Volume
- 63
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
We report on a family in which three individuals, a male and two females were affected with nonsyndromal diffuse cystic dysplasia of the kidneys. The parents had no renal abnormality. The occurrence of diffuse cystic dysplasia in three sibs born to normal parents suggests autosomal recessive inheritance. 01996 Wiley-Liss, Inc.
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