## Abstract Rubinstein–Taybi syndrome (RTS) is a rare multiple congenital anomaly/intellectual impairment syndrome. Loss of function in __CREBBP__ or __EP300__ genes has been found in about 50% of patients with RTS. Genotype–phenotype correlations were investigated in 93 patients meeting diagnostic
Gitelman’s syndrome: towards genotype-phenotype correlations?
✍ Scribed by Eva Riveira-Munoz; Qing Chang; René J. Bindels; Olivier Devuyst
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 301 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0931-041X
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