Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence? [electronic resource]
Producer: 20151022Description: 409-12 p. digitalISSN:- 1476-5438
- Abnormalities, Multiple -- diagnosis
- Child
- Class I Phosphatidylinositol 3-Kinases
- Comparative Genomic Hybridization
- Consanguinity
- Exome
- Genetic Variation
- Germ-Line Mutation
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Megalencephaly -- diagnosis
- Models, Biological
- Pedigree
- Phenotype
- Phosphatidylinositol 3-Kinases -- genetics
- Protein Tyrosine Phosphatase, Non-Receptor Type 11 -- genetics
- Skin Diseases, Vascular -- diagnosis
- Telangiectasis -- congenital
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Publication Type: Journal Article
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