Poikiloderma with neutropenia: A novel C16orf57 mutation and clinical diagnostic criteria

British Journal of Dermatology

Volumn 163, Issue 4, 2010, Pages 866-869

  Arnold, A W ^a   Itin, P H ^a   Pigors, M ^b   Kohlhase, J ^c   Bruckner Tuderman, L ^b   Has, C ^b  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

Author keywords

C16orf57; Clericuzio; diagnostic guide; gene analysis; neutropenia; poikiloderma

Indexed keywords

FERRITIN; GENOMIC DNA; IRON; LACTATE DEHYDROGENASE; RNA;

ANEMIA; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; ECHOGRAPHY; FIBROBLAST; GENE MUTATION; GENETIC ASSOCIATION; GROWTH RETARDATION; HEPATOSPLENOMEGALY; HUMAN; KERATINOCYTE; KERATODERMA; LABORATORY DIAGNOSIS; MALE; MELANOCYTE; NEUTROPENIA; PACHYONYCHIA; POIKILODERMA; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION; SKIN BIOPSY; THROMBOCYTOPENIA;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; NEUTROPENIA; ROTHMUND-THOMSON SYNDROME;

EID: 77957026619     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09929.x     Document Type: Article

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