New clinico-genetic classification of trichothiodystrophy

American Journal of Medical Genetics, Part A

Volumn 149, Issue 9, 2009, Pages 2020-2030

  Morice Picard, Fanny ^a   Cario André, Muriel ^b   Rezvani, Hamid ^b   Lacombe, Didier ^a   Sarasin, Alain ^c   Taïeb, Alain ^a,b  

^a HÔPITAL PELLEGRIN   (France)

^b INSERM   (France)

^c CNRS   (France)

Author keywords

DNA repair; Ichthyosis; Photosensitivity; Transcription factor THFIIH; TTD

Indexed keywords

ARTICLE; BONE MALFORMATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE CLASSIFICATION; EPIDERMIS; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HYPOGONADISM; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; TISSUE DIFFERENTIATION; TRICHOTHIODYSTROPHY;

ADOLESCENT; ADULT; CHILD; DNA REPAIR; GENOTYPE; HAIR; HUMANS; ICHTHYOSIS; MALE; MUTATION; PHENOTYPE; SKIN; TRANSCRIPTION FACTOR TFIIH; TRICHOTHIODYSTROPHY SYNDROMES; YOUNG ADULT;

EID: 69249117834     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32902     Document Type: Article

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