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Journal of the American Academy of Dermatology
Volumn 58, Issue 5 SUPPL. 1, 2008, Pages
Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene
Author keywords

[No Author keywords available]
Indexed keywords

GENOMIC DNA;
EID: 41849126325     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2007.03.031     Document Type: Article
Times cited : (20)
References (5)
  • 1
    • 13544274478 scopus 로고    scopus 로고
    • Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
    • Hellemans J., Preobrazhenska O., Willaert A., Debeer P., Verdonk P.C.M., Costa T., et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 36 (2004) 1213-1218
    • (2004) Nat Genet , vol.36 , pp. 1213-1218
    • Hellemans, J.1    Preobrazhenska, O.2    Willaert, A.3    Debeer, P.4    Verdonk, P.C.M.5    Costa, T.6
  • 2
    • 33746624805 scopus 로고    scopus 로고
    • Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
    • Hellemans J., Debeer P., Wright M., Janecke A., Kjaer K.W., Verdonk P.C., et al. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat 27 (2006) 290
    • (2006) Hum Mutat , vol.27 , pp. 290
    • Hellemans, J.1    Debeer, P.2    Wright, M.3    Janecke, A.4    Kjaer, K.W.5    Verdonk, P.C.6
  • 3
    • 0345293221 scopus 로고    scopus 로고
    • Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease
    • Ehrig T., and Cockerell C. Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease. J Am Acad Dermatol 49 (2003) 1163-1166
    • (2003) J Am Acad Dermatol , vol.49 , pp. 1163-1166
    • Ehrig, T.1    Cockerell, C.2
  • 4
    • 0028280355 scopus 로고
    • Buschke-Ollendorff syndrome, otosclerosis, and congenital spinal stenosis
    • Schnur R.E., Grace K., and Herzberg A. Buschke-Ollendorff syndrome, otosclerosis, and congenital spinal stenosis. Pediatr Dermatol 11 (1994) 31-34
    • (1994) Pediatr Dermatol , vol.11 , pp. 31-34
    • Schnur, R.E.1    Grace, K.2    Herzberg, A.3
  • 5
    • 0035282968 scopus 로고    scopus 로고
    • Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)
    • Balemans W., Ebeling M., Patel N., Van Hul E., Olson P., Dioszegi M., et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet 10 (2001) 537-543
    • (2001) Hum Mol Genet , vol.10 , pp. 537-543
    • Balemans, W.1    Ebeling, M.2    Patel, N.3    Van Hul, E.4    Olson, P.5    Dioszegi, M.6

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.