Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

European Journal of Medical Genetics

Volumn 57, Issue 6, 2014, Pages 247-252

  Brady, Paul D ^a   Van Houdt, Jeroen ^a   Callewaert, Bert ^b   Deprest, Jan ^a,c   Devriendt, Koenraad ^a   Vermeesch, Joris R ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b GHENT UNIVERSITY   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

CDH; Congenital diaphragmatic hernia; Diaphragm eventration; Exome sequencing; ZFPM2

Indexed keywords

ADULT; ARTICLE; CARDIOVASCULAR MALFORMATION; CLINICAL ARTICLE; CONGENITAL DIAPHRAGM HERNIA; DIAPHRAGM EVENTRATION; EXOME; FAMILY; FEMALE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; SIBLING; ZFPM2 GENE; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; HAPLOINSUFFICIENCY; HETEROZYGOTE; PEDIGREE; PROCEDURES; STOP CODON;

DNA BINDING PROTEIN; STOP CODON; TRANSCRIPTION FACTOR; ZFPM2 PROTEIN, HUMAN;

CARDIOVASCULAR ABNORMALITIES; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXOME; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HERNIAS, DIAPHRAGMATIC, CONGENITAL; HETEROZYGOTE; HUMANS; MALE; PEDIGREE; PENETRANCE; TRANSCRIPTION FACTORS;

EID: 84900860238     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.04.006     Document Type: Article

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