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Volumn 34, Issue 3, 2014, Pages 265-266

Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines

Author keywords

[No Author keywords available]

Indexed keywords

ANEMIA; CRYPTORCHISM; DURSUN SYNDROME; DYSPLASIA; G6PC3 GENE; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPOPLASIA; LETTER; MONOCYTOSIS; NEUTROPENIA; NEWBORN PERIOD; NOSE MALFORMATION; PRIORITY JOURNAL; SEVERE CONGENITAL NEUTROPENIA; SEVERE CONGENITAL NEUTROPENIA 4 NONSYNDROMIC; SYNDROMIC SEVERE CONGENITAL NEUTROPENIA 4; THROMBOCYTOPENIA; THYMUS; GENETICS; HOMOZYGOTE; MALE; MUTATION; SEVERITY OF ILLNESS INDEX;

EID: 84898056569     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-014-9999-1     Document Type: Letter
Times cited : (6)

References (6)
  • 1
    • 84889028937 scopus 로고    scopus 로고
    • A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family
    • Alangari AA, Alsultan A, Osman ME, Anazi S, Alkuraya FS. A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol. 2013;33:1403-6.
    • (2013) J Clin Immunol. , vol.33 , pp. 1403-1406
    • Alangari, A.A.1    Alsultan, A.2    Osman, M.E.3    Anazi, S.4    Alkuraya, F.S.5
  • 2
    • 58149240054 scopus 로고    scopus 로고
    • Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: A probable new familial syndrome with multisystem involvement
    • 19011569 10.1097/MCD.0b013e32831841f7
    • Dursun A, Ozgul RK, Soydas A, Tugrul T, Gurgey A, Celiker A. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement. Clin Dysmorphol. 2009;18(1):19-23.
    • (2009) Clin Dysmorphol , vol.18 , Issue.1 , pp. 19-23
    • Dursun, A.1    Ozgul, R.K.2    Soydas, A.3    Tugrul, T.4    Gurgey, A.5    Celiker, A.6
  • 3
    • 78349290397 scopus 로고    scopus 로고
    • Mutations in the G6PC3 gene cause Dursun syndrome
    • 20799326 10.1002/ajmg.a.33615
    • Banka S, Newman WG, Ozgül RK, Dursun A. Mutations in the G6PC3 gene cause Dursun syndrome. Am J Med Genet A. 2010;152A(10):2609-11.
    • (2010) Am J Med Genet A , vol.152 , Issue.10 , pp. 2609-2611
    • Banka, S.1    Newman, W.G.2    Ozgül, R.K.3    Dursun, A.4
  • 5
    • 84872981709 scopus 로고    scopus 로고
    • G6PC3 mutations cause non-syndromic severe congenital neutropenia
    • 23298686 10.1016/j.ymgme.2012.12.001
    • Banka S, Wynn R, Byers H, Arkwright PD, Newman WG. G6PC3 mutations cause non-syndromic severe congenital neutropenia. Mol Genet Metab. 2013;108(2):138-41.
    • (2013) Mol Genet Metab , vol.108 , Issue.2 , pp. 138-141
    • Banka, S.1    Wynn, R.2    Byers, H.3    Arkwright, P.D.4    Newman, W.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.