메뉴 건너뛰기




Volumn 11, Issue 1, 2008, Pages 63-65

Clinical and microscopic hair features of Griscelli syndrome associated with asymmetric crying facies in an infant

Author keywords

Asymmetric crying facies; Griscelli syndrome; Infant

Indexed keywords

ANTIBIOTIC AGENT;

EID: 39749185624     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/07-02-0228.1     Document Type: Article
Times cited : (4)

References (15)
  • 1
    • 0042388106 scopus 로고    scopus 로고
    • Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)
    • Menasche G, Ho CH, Sanal O, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest 2003;112:450-456.
    • (2003) J Clin Invest , vol.112 , pp. 450-456
    • Menasche, G.1    Ho, C.H.2    Sanal, O.3
  • 3
    • 0028032845 scopus 로고
    • Partial albinism with immunodeficiency (Griscelli syndrome)
    • Klein C, Philippe N, Le Deist F, et al. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr 1994;125:886-895.
    • (1994) J Pediatr , vol.125 , pp. 886-895
    • Klein, C.1    Philippe, N.2    Le Deist, F.3
  • 6
    • 0030797497 scopus 로고    scopus 로고
    • Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: A study of 50 patients
    • Lin DS, Huang FY, Lin SP, et al. Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients. Am J Med Genet 1997;71:215-218.
    • (1997) Am J Med Genet , vol.71 , pp. 215-218
    • Lin, D.S.1    Huang, F.Y.2    Lin, S.P.3
  • 7
    • 0014471310 scopus 로고
    • Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association
    • Cayler GG. Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 1969;44:69-75.
    • (1969) Arch Dis Child , vol.44 , pp. 69-75
    • Cayler, G.G.1
  • 8
    • 0015373259 scopus 로고
    • Asymmetric crying facies: An index of other congenital anomalies
    • Pape KE, Pickering D. Asymmetric crying facies: an index of other congenital anomalies. J Pediatr 1972;81:21-30.
    • (1972) J Pediatr , vol.81 , pp. 21-30
    • Pape, K.E.1    Pickering, D.2
  • 9
    • 0034484763 scopus 로고    scopus 로고
    • Asymmetric crying facies and associated congenital anomalies: Prospective study and review of the literature
    • Lahat E, Heyman E, Barkay A, Goldberg M. Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature. J Child Neurol 2000;15:808-810.
    • (2000) J Child Neurol , vol.15 , pp. 808-810
    • Lahat, E.1    Heyman, E.2    Barkay, A.3    Goldberg, M.4
  • 10
    • 0141867676 scopus 로고    scopus 로고
    • Associated anomalies in asymmetric crying facies and 22q11 deletion
    • Akcakus M, Ozkul Y, Gunes T, et al. Associated anomalies in asymmetric crying facies and 22q11 deletion. Genet Couns 2003;14:325-330.
    • (2003) Genet Couns , vol.14 , pp. 325-330
    • Akcakus, M.1    Ozkul, Y.2    Gunes, T.3
  • 11
    • 0033879511 scopus 로고    scopus 로고
    • An allelic variant of Griscelli disease: Presentation with severe hypotonia mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder)
    • Sanal O, Yel L, Kucukali T, et al. An allelic variant of Griscelli disease: presentation with severe hypotonia mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder). J Neurol 2000;247:570-572.
    • (2000) J Neurol , vol.247 , pp. 570-572
    • Sanal, O.1    Yel, L.2    Kucukali, T.3
  • 12
    • 0030914460 scopus 로고    scopus 로고
    • Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin Va gene
    • Pastural E, Barrat FJ, Dufourcq-Lagelouse R, et al. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin Va gene. Nat Genet 1997;16:289-292.
    • (1997) Nat Genet , vol.16 , pp. 289-292
    • Pastural, E.1    Barrat, F.J.2    Dufourcq-Lagelouse, R.3
  • 13
    • 0015373667 scopus 로고
    • Congenital hypoplasia of the depressor anguli oris muscle: Differentiation from congenital facial palsy
    • Nelson KB, Eng GD. Congenital hypoplasia of the depressor anguli oris muscle: differentiation from congenital facial palsy. J Pediatr 1972;81:16-20.
    • (1972) J Pediatr , vol.81 , pp. 16-20
    • Nelson, K.B.1    Eng, G.D.2
  • 14
    • 0020518634 scopus 로고
    • Congenital hypoplasia of the depressor anguli oris muscle in the differential diagnosis of facial paralysis
    • Millen SJ, Baruah JK. Congenital hypoplasia of the depressor anguli oris muscle in the differential diagnosis of facial paralysis. Laryngoscope 1983;93:1168-1170.
    • (1983) Laryngoscope , vol.93 , pp. 1168-1170
    • Millen, S.J.1    Baruah, J.K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.