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Volumn 29, Issue 4, 2012, Pages 463-472

Poikiloderma with neutropenia: Report of three cases including one with calcinosis cutis

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD CELL COUNT; CALCINOSIS; CASE REPORT; CHILD; CHROMOSOME 16Q; EAR; FEMALE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; INDIAN; INFECTION; MALE; NEUTROPENIA; POIKILODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL; RASH; RECURRENT DISEASE; SCREENING TEST; SKIN BIOPSY;

EID: 84863473208     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2011.01513.x     Document Type: Article
Times cited : (26)

References (11)
  • 1
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    • Immune deficient poikiloderma: A new genodermatosis
    • Clericuzio C, Hoyme HE, Aase JM,. Immune deficient poikiloderma: A new genodermatosis. Am J Hum Genet 1991; 49: A661.
    • (1991) Am J Hum Genet , vol.49
    • Clericuzio, C.1    Hoyme, H.E.2    Aase, J.M.3
  • 5
    • 55849088400 scopus 로고    scopus 로고
    • Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco
    • Mostefai R, Morice-Picard F, Boralevi F, et al., Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A 2008; 146A: 2762-2769.
    • (2008) Am J Med Genet A , vol.146 A , pp. 2762-2769
    • Mostefai, R.1    Morice-Picard, F.2    Boralevi, F.3
  • 6
    • 73149112435 scopus 로고    scopus 로고
    • Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene
    • Volpi L, Roversi G, Colombo EA, et al., Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet 2010; 86: 72-76.
    • (2010) Am J Hum Genet , vol.86 , pp. 72-76
    • Volpi, L.1    Roversi, G.2    Colombo, E.A.3
  • 7
    • 78349244790 scopus 로고    scopus 로고
    • Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype
    • Concolino D, Roversi G, Muzzi GL, et al., Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype. Am J Med Genet A 2010; 152A: 2588-2594.
    • (2010) Am J Med Genet A , vol.152 A , pp. 2588-2594
    • Concolino, D.1    Roversi, G.2    Muzzi, G.L.3
  • 8
    • 77957026619 scopus 로고    scopus 로고
    • Poikiloderma with neutropenia: A novel C16orf57 mutation and clinical diagnostic criteria
    • Arnold AW, Itin PH, Pigors M, et al., Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria. Br J Dermatol 2010; 163: 866-869.
    • (2010) Br J Dermatol , vol.163 , pp. 866-869
    • Arnold, A.W.1    Itin, P.H.2    Pigors, M.3
  • 9
    • 79251528583 scopus 로고    scopus 로고
    • Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia
    • Clericuzio C, Harutyunyan K, Jin W, et al., Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A 2011; 155: 337-342.
    • (2011) Am J Med Genet A , vol.155 , pp. 337-342
    • Clericuzio, C.1    Harutyunyan, K.2    Jin, W.3
  • 10
    • 77952762745 scopus 로고    scopus 로고
    • Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia
    • Tanaka A, Morice-Picard F, Lacombe D, et al., Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Am J Med Genet A 2010; 152A: 1347-1348.
    • (2010) Am J Med Genet A , vol.152 A , pp. 1347-1348
    • Tanaka, A.1    Morice-Picard, F.2    Lacombe, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.