Michot, Caroline <br/><br/>
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.  [electronic resource] 

 -  American journal of human genetics  Apr 2012 
 - 740-5 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2012.03.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Cyclic AMP-Dependent Protein Kinase RIalpha Subunit--genetics<br/>Cyclic Nucleotide Phosphodiesterases, Type 3--genetics<br/>Cyclic Nucleotide Phosphodiesterases, Type 4<br/>Dysostoses--genetics<br/>Exome--genetics<br/>Female<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Molecular Sequence Data<br/>Mutation<br/>Osteochondrodysplasias--genetics<br/>Parathyroid Hormone--metabolism<br/>Sequence Analysis, DNA<br/>Signal Transduction--genetics<br/>Thyrotropin--metabolism<br/>Young Adult