Döcker, Dennis <br/><br/>
Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?  [electronic resource] 

 -  European journal of human genetics : EJHG  Mar 2015 
 - 409-12 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2014.118  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--diagnosis<br/>Child<br/>Class I Phosphatidylinositol 3-Kinases<br/>Comparative Genomic Hybridization<br/>Consanguinity<br/>Exome<br/>Genetic Variation<br/>Germ-Line Mutation<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Male<br/>Megalencephaly--diagnosis<br/>Models, Biological<br/>Pedigree<br/>Phenotype<br/>Phosphatidylinositol 3-Kinases--genetics<br/>Protein Tyrosine Phosphatase, Non-Receptor Type 11--genetics<br/>Skin Diseases, Vascular--diagnosis<br/>Telangiectasis--congenital