PIBI(D)S: Clinical and molecular characterization of a new case

Journal of the European Academy of Dermatology and Venereology

Volumn 15, Issue 1, 2001, Pages 65-69

  Belloni Fortina, A ^a   Alaibac, M ^a   Piaserico, S ^a   Peserico, A ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

DNA repair; PIBI(D)S syndrome; Trichothiodystrophy; Xeroderma pigmentosum group D

Indexed keywords

DNA; NUCLEOTIDE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN; CASE REPORT; CELL FUSION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DNA REPAIR; EXCISION REPAIR; GENETIC COMPLEMENTATION; HAIR ANALYSIS; HUMAN; ICHTHYOSIS; MALE; MUSCLE TONE; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOSCLEROSIS; PHOTOSENSITIVITY; PIBI(D) SYNDROME; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SPINE; TENDON REFLEX; XERODERMA PIGMENTOSUM;

CHILD; DWARFISM; HAIR; HUMANS; ICHTHYOSIS; MALE; MENTAL RETARDATION; PHOTOSENSITIVITY DISORDERS; SULFUR; SYNDROME;

EID: 0034854165     PISSN: 09269959     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1468-3083.2001.00212.x     Document Type: Article

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15. Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFHIIH)
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