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Volumn 79, Issue 8, 2012, Pages 1091-1093

Frank-ter haar syndrome in a newborn

Author keywords

Developmental delay; Frank Ter Haar syndrome; Skeletal dysplasia

Indexed keywords

ANTICONVULSIVE AGENT; DNA;

EID: 84866740439     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-011-0599-2     Document Type: Review
Times cited : (8)

References (10)
  • 2
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    • Melnick-needles syndrome: Indication for an autosomal recessive form
    • Ter Haar B, Hamel B, Hendriks J, de Jager J. Melnick-Needles Syndrome: indication for an autosomal recessive form. Am J Med Genet. 1982;13:469-77.
    • (1982) Am J Med Genet , vol.13 , pp. 469-467
    • Ter Haar, B.1    Hamel, B.2    Hendriks, J.3    De Jager, J.4
  • 3
    • 0028932497 scopus 로고
    • Autosomal recessive melnick-needles syndrome or ter-haar syndrome? Report of a patient and reappraisal of an earlier report
    • Hamel BCJ, Draaisma JMT, Pinckers AJLG, et al. Autosomal recessive Melnick-needles syndrome or Ter-Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet. 1995;56:312-16.
    • (1995) Am J Med Genet , vol.56 , pp. 312-311
    • Hamel, B.C.J.1    Draaisma, J.M.T.2    Ajlg, P.3
  • 4
    • 0020351155 scopus 로고
    • Letter to the editor: X-linked or autosomal dominant lethal in the male, inheritance of the melnick-needles (osteodysplasty) syndrome? A reappraisal
    • Gorlin RJ, Knier J. Letter to the editor: X-linked or Autosomal Dominant lethal in the male, inheritance of the Melnick-Needles (osteodysplasty) syndrome? A reappraisal. Am J Med Genet. 1982;13:465-67.
    • (1982) Am J Med Genet , vol.13 , pp. 465-466
    • Gorlin, R.J.1    Knier, J.2
  • 5
    • 84866733285 scopus 로고    scopus 로고
    • The skeletal dysplasias
    • Behrman RE, Kliegman RM, Jenson HB, editors. 18th ed. Philadelphia: Elsevier
    • Horton WA, Hecht JT. The Skeletal dysplasias. In: Behrman RE, Kliegman RM, Jenson HB, editors. Nelson textbook of pediatrics. 18th ed. Philadelphia: Elsevier; 2007. p. 2869-87.
    • (2007) Nelson Textbook of Pediatrics , pp. 2869-2868
    • Horton, W.A.1    Hecht, J.T.2
  • 6
    • 53149100532 scopus 로고    scopus 로고
    • Fetal skelatal dysplasia: An approach to diagnosis with illustrative cases
    • Dighe M, Fligner C, Cheng E, Warren B, Dubinsky T. Fetal skelatal dysplasia: an approach to diagnosis with illustrative cases. Radiographics. 2008;28:1061-77.
    • (2008) Radiographics , vol.28 , pp. 1061-1067
    • Dighe, M.1    Fligner, C.2    Cheng, E.3    Warren, B.4    Dubinsky, T.5
  • 8
    • 0030716477 scopus 로고    scopus 로고
    • Limb deformities, skeletal dysplasia, and facial anomalies: Report of another family
    • Megarbane A, Tomey K, Wakim G. Congenital Glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. Am J Med Genet. 1997;73:67-71.
    • (1997) Am J Med Genet , vol.73 , pp. 67-67
    • Megarbane, A.1    Tomey, K.2    Wakim, G.3    Glaucoma, C.4
  • 10
    • 76049088520 scopus 로고    scopus 로고
    • Disruption of the podosome adaptor protein tks4 (sh3pxd2b) causes the skeletal dysplasia, eye, and cardiac abnormalities of frank-Ter haar syndrome
    • Iqbal Z, Cejudo MP, de Brouwer A, et al. Disruption of the podosome adaptor protein Tks4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome. Am J Hum Genet. 2010;86:254-61.
    • (2010) Am J Hum Genet , vol.86 , pp. 254-256
    • Iqbal, Z.1    Cejudo, M.P.2    De Brouwer, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.