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Volumn 41, Issue 3, 2011, Pages 389-393

Raine syndrome: Expanding the radiological spectrum

Author keywords

Binder syndrome; Child; Chondrodysplasia punctata; Pyriform aperture stenosis; Raine syndrome

Indexed keywords

PARATHYROID HORMONE;

EID: 79953829795     PISSN: 03010449     EISSN: 14321998     Source Type: Journal    
DOI: 10.1007/s00247-010-1875-4     Document Type: Article
Times cited : (15)

References (8)
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    • Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia
    • Simpson MA, Scheuerle A, Hurst J et al (2009) Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet 75:271-276
    • (2009) Clin Genet , vol.75 , pp. 271-276
    • Simpson, M.A.1    Scheuerle, A.2    Hurst, J.3
  • 2
    • 0031739927 scopus 로고    scopus 로고
    • Intracranial calcification in Raine syndrome: Radiological pathological correlation
    • DOI 10.1007/s002470050473
    • Al Mane K, Al-Dayel F, McDonald P (1998) Intracranial calcification in Raine syndrome: radiological pathological correlation. Pediatr Radiol 28:820-823 (Pubitemid 28510995)
    • (1998) Pediatric Radiology , vol.28 , Issue.11 , pp. 820-823
    • Al, M.K.1    Al-Dayel, F.2    McDonald, P.3
  • 4
    • 79953816630 scopus 로고    scopus 로고
    • Non-lethal Raine syndrome in siblings with a Fam20C mutation revisiting Fam20 genes classification
    • in press
    • Fradin M, Stoetzel C, Muller J et al (2010) Non-lethal Raine syndrome in siblings with a Fam20C mutation revisiting Fam20 genes classification. Clin Genet (in press)
    • (2010) Clin Genet
    • Fradin, M.1    Stoetzel, C.2    Muller, J.3
  • 5
    • 59649101167 scopus 로고    scopus 로고
    • Binder phenotype: Clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature
    • Levaillant JM, Moeglin D, Zouiten K et al (2009) Binder phenotype: clinical and etiological heterogeneity of the so-called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature. Prenat Diagn 29:140-150
    • (2009) Prenat Diagn , vol.29 , pp. 140-150
    • Levaillant, J.M.1    Moeglin, D.2    Zouiten, K.3
  • 6
    • 37249062144 scopus 로고    scopus 로고
    • Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings
    • Chitayat D, Shannon P, Keating S et al (2007) Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet 143A:3280-3285
    • (2007) Am J Med Genet , vol.143 A , pp. 3280-3285
    • Chitayat, D.1    Shannon, P.2    Keating, S.3
  • 7
    • 16444365537 scopus 로고    scopus 로고
    • Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): A possible role for vitamin K deficiency
    • DOI 10.1002/bdra.20123
    • Jaillet J, Robert-Gnansia E, Till M et al (2005) Biliary lithiasis in early pregnancy and abnormal development of facial and distal limb bones (Binder syndrome): a possible role for vitamin K deficiency. Birth Defects Res A Clin Mol Teratol 73:188-193 (Pubitemid 40478245)
    • (2005) Birth Defects Research Part A - Clinical and Molecular Teratology , vol.73 , Issue.3 , pp. 188-193
    • Jaillet, J.1    Robert-Gnansia, E.2    Till, M.3    Vinciguerra, C.4    Edery, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.