Ørstavik, Karen Helene <br/><br/>
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jul 2007 
 - 1510-3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.31797  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>Chromosome Painting<br/>Chromosomes, Human, Pair 9--genetics<br/>Chromosomes, Human, X--genetics<br/>Ectodermal Dysplasia--diagnosis<br/>Ectodysplasins--genetics<br/>Female<br/>Genetic Linkage<br/>Hair--abnormalities<br/>Humans<br/>Mutation<br/>RNA, Long Noncoding<br/>RNA, Untranslated--genetics<br/>Sequence Deletion<br/>Tooth Abnormalities--genetics<br/>X Chromosome Inactivation