William J Tapper Nicola Foulds Nicholas C P Cross Paula Aranaz Joannah Score Claire Hidalgo-Curtis David O Robinson Jane Gibson Sarah Ennis I Karen Temple Andrew Collins
10.1371/journal.pone.0086940
PLoS One
2014 Jan 31;9(1):e86940.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24497998/
Exome / genetics Genetic Predisposition to Disease / genetics Megalencephaly / genetics Mutation Sequence Analysis, DNA / methods
Exome / genetics Genetic Predisposition to Disease / genetics Megalencephaly / genetics Mutation Sequence Analysis, DNA / methods Case Reports Research Support, Non-U.S. Gov't Capillaries / abnormalities Capillaries / pathology Class I Phosphatidylinositol 3-Kinases Fatal Outcome Female Gene Frequency Genotype Humans Hydrocephalus / genetics Hydrocephalus / pathology Infant Male Megalencephaly / pathology Phenotype Phosphatidylinositol 3-Kinases / genetics Polydactyly / genetics Polydactyly / pathology Polymorphism, Single Nucleotide Proto-Oncogene Proteins c-akt / genetics Syndactyly / genetics Syndactyly / pathology Syndrome Vascular Malformations / genetics Vascular Malformations / pathology Phosphatidylinositol 3-Kinases phosphoinositol-3 kinase regulatory subunit 2, human Class I Phosphatidylinositol 3-Kinases PIK3CA protein, human Proto-Oncogene Proteins c-akt Capillary Malformations, Congenital, 1
PMC3908952
24497998
Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations
2014