Wimplinger, Isabella <br/><br/>
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.  [electronic resource] 

 -  European journal of medical genetics   
 - 421-31 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1769-7212 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2007.07.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Child, Preschool<br/>Chromosomes, Human, X--genetics<br/>Female<br/>Humans<br/>Male<br/>Microphthalmos--genetics<br/>Mosaicism<br/>Mothers<br/>Nuclear Family<br/>Pedigree<br/>Skin Abnormalities--genetics<br/>Syndrome<br/>X Chromosome Inactivation--genetics