ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2892-2900

  Shehata, Laila ^a   Simeonov, Dimitre R ^a   Raams, Anja ^b   Wolfe, Lynne ^a   Vanderver, Adeline ^a,c   Li, Xueli ^d   Huang, Yan ^a   Garner, Shannon ^e   Boerkoel, Cornelius F ^a   Thurm, Audrey ^f   Herman, Gail E ^e   Tifft, Cynthia J ^a   He, Miao ^d   Jaspers, Nicolaas G J ^b   Gahl, William A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e NATIONWIDE CHILDREN S HOSPITAL   (United States)

^f NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

Cockayne syndrome group B; Deafness; Developmental delay; Hypomyelination; Intellectual disability; Vision loss

Indexed keywords

OLIGOSACCHARIDE; BIOLOGICAL MARKER; DNA HELICASE; DNA LIGASE; ERCC6 PROTEIN, HUMAN;

ARTICLE; BRAIN HYPOMYELINATION; CASE REPORT; CHILD; COCKAYNE SYNDROME; CONTROLLED STUDY; DEMYELINATING DISEASE; DEVELOPMENTAL DISORDER; ERCC6 GENE; EXCISION REPAIR; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GROWTH DISORDER; HUMAN; HUMAN CELL; HYPOREFLEXIA; MALE; MENTAL DETERIORATION; MICROCEPHALY; NYSTAGMUS; PERCEPTION DEAFNESS; PHOTOSENSITIVITY; PRIORITY JOURNAL; RETINA PIGMENT DEGENERATION; SCHOOL CHILD; SIBLING; SKIN FIBROBLAST; TREMOR; URINALYSIS; WALKING DIFFICULTY; ALTERNATIVE RNA SPLICING; BRAIN; DNA MUTATIONAL ANALYSIS; FACIES; GENE EXPRESSION; GENETICS; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; INTRON; METABOLISM; MUTATION; NERVOUS SYSTEM DISEASES; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

ALTERNATIVE SPLICING; BIOMARKERS; BRAIN; CHILD; CHILD, PRESCHOOL; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA REPAIR ENZYMES; FACIES; FEMALE; GENE EXPRESSION; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; INTRONS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVOUS SYSTEM DISEASES; PEDIGREE; PHENOTYPE; SIBLINGS;

EID: 84910680958     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36709     Document Type: Article

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