Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit

Clinical Genetics

Volumn 87, Issue 1, 2015, Pages 56-61

  Hijazi, H ^a   Salih, M A ^b   Hamad, M H A ^b   Hassan, H H ^c   Salih, S B M ^d   Mohamed, K A ^e   Mukhtar, M M ^f   Karrar, Z A ^g   Ansari, S ^a   Ibrahim, N ^a   Alkuraya, F S ^a,h  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d MAFRAQ HOSPITAL   (United Arab Emirates)

^e SHEIKH KHALIFA MEDICAL CITY   (United Arab Emirates)

^f UNIVERSITY OF KHARTOUM   (Sudan)

^g UNIVERSITY OF KHARTOUM   (Sudan)

^h ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Cockayne; DNA damage; Exome; Niacin; Pellagra like; Xeroderma pigmentosum

Indexed keywords

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

ANTHROPOMETRIC PARAMETERS; ARTICLE; CASE REPORT; CATARACT; CEREBELLUM ATROPHY; CHILD; COCKAYNE SYNDROME; DEATH; DEVELOPMENTAL DELAY; DIARRHEA; DNA DAMAGE; EPILEPSY; ERCC5 GENE; EXOME; FAILURE TO THRIVE; FEMALE; FIBROBLAST; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PELLAGRA; PSYCHOMOTOR DISORDER; RASH; SEQUENCE ANALYSIS; SKIN EXAMINATION; SKIN EXFOLIATION; SUN EXPOSURE; TREATMENT OUTCOME; TREATMENT RESPONSE; WHOLE EXOME SEQUENCING; X-RAY COMPUTED TOMOGRAPHY; XERODERMA PIGMENTOSUM; COMET ASSAY; DNA SEQUENCE; DRUG EFFECTS; FATALITY; GENETICS; INFANT; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; RADIATION RESPONSE;

BASE SEQUENCE; CHILD, PRESCHOOL; COCKAYNE SYNDROME; COMET ASSAY; DNA DAMAGE; DNA-BINDING PROTEINS; ENDONUCLEASES; EXOME; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; NIACIN; NUCLEAR PROTEINS; PEDIGREE; PELLAGRA; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; XERODERMA PIGMENTOSUM;

EID: 84919446282     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12325     Document Type: Article

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