Megalencephaly syndromes: Exome pipeline strategies for detecting low-level mosaic mutations

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Tapper, William J ^a,b   Foulds, Nicola ^a   Cross, Nicholas C P ^a,b   Aranaz, Paula ^b,c   Score, Joannah ^a,b   Hidalgo Curtis, Claire ^a,b   Robinson, David O ^a,b   Gibson, Jane ^a   Ennis, Sarah ^a   Temple, I Karen ^a   Collins, Andrew ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c UNIVERSITY OF NAVARRA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALEXANDER DISEASE; ARTICLE; BIFRONTAL BAND HETEROTOPIA; CASE REPORT; CHILD; EXOME; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROTOPIA; HUMAN; INFANT; MALE; MEGALENCEPHALY CAPILLARY MALFORMATION; MEGALENCEPHALY POLYMICROGYRIAPOLYDACTYLY HYDROCEPHALUS; MOSAICISM; PIK3CA GENE; PIK3R2 GENE; POLYDACTYLY; SYNDACTYLY;

CAPILLARIES; EXOME; FATAL OUTCOME; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; HYDROCEPHALUS; INFANT; MACROCEPHALY; MALE; MUTATION; PHENOTYPE; PHOSPHATIDYLINOSITOL 3-KINASES; POLYDACTYLY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-AKT; SEQUENCE ANALYSIS, DNA; SYNDACTYLY; SYNDROME; VASCULAR MALFORMATIONS;

EID: 84900341235     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0086940     Document Type: Article

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