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
Zdroj: In European Journal of Medical Genetics 2007 50(6):421-431
Databáze: ScienceDirect