Bartholdi, Deborah <br/><br/>
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.  [electronic resource] 

 -  American journal of medical genetics. Part A  May 2014 
 - 1277-83 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36439  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Adenosine Triphosphatases--genetics<br/>Adolescent<br/>Child<br/>Child, Preschool<br/>Chromosome Deletion<br/>Chromosomes, Human, Pair 13<br/>Comparative Genomic Hybridization<br/>Dermatitis, Atopic<br/>Eczema<br/>Facies<br/>Female<br/>HMGB1 Protein--genetics<br/>Humans<br/>Intellectual Disability<br/>Karyotyping<br/>Katanin<br/>Male<br/>Microcephaly<br/>Phenotype