Systematic search for neutropenia should be part of the first screening in patients with poikiloderma

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 8-11

  Piard, Juliette ^a,b   Holder Espinasse, Muriel ^c   Aral, Bernard ^b,d   Gigot, Nadège ^b,d   Rio, Marlène ^e   Tardieu, Marc ^f   Puzenat, Eve ^a   Goldenberg, Alice ^g   Toutain, Annick ^h   Franques, Jerôme ⁱ   MacDermot, Kay ^j   Bessis, Didier ^k   Boute, Odile ^c   Callier, Patrick ^b,d   Gueneau, Lucie ^b   Huet, Frédéric ^b,d   Vabres, Pierre ^b,d   Catteau, Benoît ^c   Faivre, Laurence ^b,d   Thauvin Robinet, Christel ^b  

^a UNIVERSITY HOSPITAL OF BESANÇON   (France)

^b UNIVERSITÉ DE BOURGOGNE   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d DIJON UNIVERSITY HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f BICÊTRE HOSPITAL   (France)

^g ROUEN UNIVERSITY HOSPITAL   (France)

^h UNIVERSITY HOSPITAL OF TOURS   (France)

ⁱ ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

^j NATIONAL HEALTH SERVICE   (United Kingdom)

^k MONTPELLIER UNIVERSITY HOSPITAL   (France)

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Author keywords

C16orf57; Neutropenia; Poikiloderma; RECQL4

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; DIFFERENTIAL DIAGNOSIS; DYSKERATOSIS CONGENITA; EXON; FEMALE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GINGIVITIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; NAIL DYSTROPHY; NEUTROPENIA; NEUTROPHIL COUNT; NONSENSE MUTATION; PACHYONYCHIA; PALMOPLANTAR KERATODERMA; PHOTOSENSITIVITY; POIKILODERMA; PRESCHOOL CHILD; SEQUENCE ANALYSIS; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CODON, NONSENSE; DIAGNOSIS, DIFFERENTIAL; ERYTHROCYTE COUNT; FEMALE; GENETIC TESTING; HETEROZYGOTE; HUMANS; NEUTROPENIA; PEDIGREE; RECQ HELICASES; RETROSPECTIVE STUDIES; ROTHMUND-THOMSON SYNDROME;

EID: 84857191679     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.07.004     Document Type: Article

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