Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome
Autor: | Wimplinger, Isabella, Rauch, Anita, Orth, Ulrike, Schwarzer, Ulrich, Trautmann, Udo, Kutsche, Kerstin |
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Zdroj: | In European Journal of Medical Genetics 2007 50(6):421-431 |
Databáze: | ScienceDirect |
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