Kolanczyk, Mateusz <br/><br/>
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.  [electronic resource] 

 -  European journal of human genetics : EJHG  May 2015 
 - 633-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2014.109  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Adolescent<br/>Amino Acid Sequence<br/>Cell Line<br/>Child<br/>Comparative Genomic Hybridization<br/>Craniofacial Abnormalities--diagnosis<br/>Dandy-Walker Syndrome--diagnosis<br/>Exome<br/>Gene Expression<br/>Genes, X-Linked<br/>Genetic Association Studies<br/>Heart Septal Defects, Atrial--diagnosis<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Intellectual Disability--diagnosis<br/>Male<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Proteins--chemistry<br/>Sequence Alignment