A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1777-1783

  Drury, Suzanne ^a   Boustred, Christopher ^a   Tekman, Mehmet ^b   Stanescu, Horia ^b   Kleta, Robert ^b   Lench, Nicholas ^a   Chitty, Lyn S ^a,c,d   Scott, Richard H ^a,c  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

Cerebrooculofacioskeletal syndrome (COFS); ERCC5; Exome sequencing; Homozygosity mapping

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; BRAIN VENTRICLE DILATATION; CEREBELLUM HYPOPLASIA; CLINICAL ARTICLE; COFS SYNDROME; CONTRACTURE; DISEASE SEVERITY; ECHOGRAPHY; ERCC5 GENE; EXOME; FEMALE; FETUS; GENE; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; MICROCEPHALY; MOLECULAR DIAGNOSIS; PRENATAL DISORDER; PRIORITY JOURNAL; SEQUENCE ANALYSIS; AUTOPSY; COCKAYNE SYNDROME; DNA SEQUENCE; FETUS DEATH; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; MUTATION; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS;

DNA BINDING PROTEIN; DNA EXCISION REPAIR PROTEIN ERCC-5; ENDONUCLEASE; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR;

ABORTED FETUS; ARTHROGRYPOSIS; AUTOPSY; COCKAYNE SYNDROME; DNA-BINDING PROTEINS; ENDONUCLEASES; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84902536762     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36506     Document Type: Article

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