Reijnders, Margot R F <br/><br/>
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.  [electronic resource] 

 -  American journal of human genetics  Feb 2016 
 - 373-81 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2015.12.015  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Choanal Atresia--diagnosis<br/>Developmental Disabilities--diagnosis<br/>Female<br/>Genes, X-Linked<br/>Genetic Testing<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Molecular Sequence Data<br/>Mutation<br/>Phenotype<br/>Ubiquitin Thiolesterase--genetics<br/>X Chromosome Inactivation<br/>Young Adult