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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly
Schaefer, E., Zaloszyc, A., Lauer, J., Durand, M., Stutzmann, F., Perdomo-Trujillo, Y., Redin, C., Bennouna Greene, V., Toutain, A., Perrin, L., Gérard, M., Caillard, S., Bei, X., Lewis, R.A., ChristmVolume:
1
Year:
2010
Language:
english
Journal:
Molecular Syndromology
DOI:
10.1159/000331268
File:
PDF, 722 KB
english, 2010