Rath, Matthias <br/><br/>
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.  [electronic resource] 

 -  American journal of medical genetics. Part A  02 2019 
 - 295-299 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.60700  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Arterial Occlusive Diseases--genetics<br/>Bone and Bones--abnormalities<br/>Brachydactyly--genetics<br/>Cell Cycle Proteins--genetics<br/>Child<br/>Female<br/>Genetic Predisposition to Disease<br/>Heart Defects, Congenital--genetics<br/>Humans<br/>Hypertension--genetics<br/>Male<br/>Middle Aged<br/>Pedigree<br/>Protein Isoforms--genetics<br/>Syndactyly--genetics<br/>Transcription Factors--genetics<br/>Exome Sequencing