Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

European Journal of Medical Genetics

Volumn 57, Issue 9, 2014, Pages 487-493

  Brady, P D ^a   Moerman, Philippe ^a   De Catte, Luc ^a   Deprest, J ^a   Devriendt, K ^a   Vermeesch, J R ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

CDH; Congenital Diaphragmatic Hernia; Exome sequencing; GPI anchor; PIGN

Indexed keywords

PHOSPHATIDYLINOSITOL; GLYCOSYLPHOSPHATIDYLINOSITOL ETHANOLAMINE PHOSPHATE TRANSFERASE 1, HUMAN; PHOSPHOTRANSFERASE; RNA SPLICING;

ARTICLE; CARDIOVASCULAR MALFORMATION; CLEFT PALATE; CONGENITAL DIAPHRAGM HERNIA; DNA SEQUENCE; EXOME; FACE DYSMORPHIA; FETUS; FINGER MALFORMATION; GENE FUNCTION; GENE LIBRARY; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; KIDNEY DYSPLASIA; LOSS OF FUNCTION MUTATION; MICROARRAY ANALYSIS; OLIGODACTYLY; STOP CODON; CASE REPORT; CHROMOSOME MAP; CONSANGUINITY; FETUS DEATH; GENETICS; GENOTYPE; HERNIAS, DIAPHRAGMATIC, CONGENITAL; HIGH THROUGHPUT SEQUENCING; MUTATION; PATHOLOGY; PEDIGREE; RECESSIVE GENE; RNA SPLICING; SYNDROME;

ABORTED FETUS; CHROMOSOME MAPPING; CONSANGUINITY; EXOME; GENES, RECESSIVE; GENOTYPE; HERNIAS, DIAPHRAGMATIC, CONGENITAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES; RNA SPLICE SITES; SYNDROME;

EID: 84925944413     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.05.001     Document Type: Article

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