Campeau, Philippe M <br/><br/>
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part C, Seminars in medical genetics  Sep 2014 
 - 327-32 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article 
<br/><br/><label>ISSN: </label>1552-4876 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.c.31412  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--etiology<br/>Carrier Proteins--genetics<br/>Chromosomal Proteins, Non-Histone--genetics<br/>Craniofacial Abnormalities--etiology<br/>DNA-Binding Proteins--genetics<br/>Exome<br/>Face--abnormalities<br/>GTPase-Activating Proteins<br/>Genetic Association Studies<br/>Hand Deformities, Congenital--etiology<br/>Hearing Loss, Sensorineural--etiology<br/>Humans<br/>Intellectual Disability--etiology<br/>Membrane Proteins<br/>Micrognathism--etiology<br/>Mutation<br/>Nails, Malformed--etiology<br/>Neck--abnormalities<br/>Nerve Tissue Proteins<br/>SMARCB1 Protein<br/>Seizures--genetics<br/>Transcription Factors--genetics