Loucks, Catrina M <br/><br/>
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.  [electronic resource] 

 -  Human mutation  Oct 2015 
 - 1015-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.22843  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Bone and Bones--abnormalities<br/>Child, Preschool<br/>Cohort Studies<br/>Craniosynostoses--genetics<br/>Dwarfism--genetics<br/>Ectodermal Dysplasia--genetics<br/>Female<br/>Humans<br/>Information Dissemination<br/>Intellectual Disability--genetics<br/>Male<br/>Minor Histocompatibility Antigens<br/>Mutation, Missense<br/>Pedigree<br/>Tumor Suppressor Proteins--genetics<br/>Young Adult