Balasubramanian, Meena <br/><br/>
CRTAP mutation in a patient with Cole-Carpenter syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Mar 2015 
 - 587-91 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.36916  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Bone and Bones--abnormalities<br/>Child<br/>Craniosynostoses--diagnosis<br/>Extracellular Matrix Proteins--genetics<br/>Eye Abnormalities--diagnosis<br/>Facies<br/>Female<br/>Genetic Association Studies<br/>Homozygote<br/>Humans<br/>Hydrocephalus--diagnosis<br/>Molecular Chaperones<br/>Mutation<br/>Osteogenesis Imperfecta--diagnosis<br/>Phenotype<br/>Radiography<br/>Sequence Analysis, DNA