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Volumn 77, Issue 2, 2010, Pages 196-197

Freeman-Sheldon syndrome-prenatal and postnatal diagnosis

Author keywords

Arthrogryposis; Freeman Sheldon syndrome; MYH3 Gene; Whistling face syndrome

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; FACE DYSMORPHIA; FACE MALFORMATION; FEMALE; FETUS; HUMAN; HYPOPITUITARISM; LONG PHILTRUM; PES EQUINOVARUS; PRENATAL DIAGNOSIS; THIRD TRIMESTER PREGNANCY;

EID: 77949264869     PISSN: 00195456     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12098-009-0227-6     Document Type: Article
Times cited : (7)

References (8)
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    • 10.1136/adc.13.75.277
    • E. A. Freeman J. H. Sheldon 1938 Cranio-carpotarsal dystrophy: undescribed congenital malformation Arch Dis Child 13 277 283 10.1136/adc.13.75.277
    • (1938) Arch Dis Child , vol.13 , pp. 277-283
    • Freeman, E.A.1    Sheldon, J.H.2
  • 2
    • 0000289682 scopus 로고
    • The 'whistling face' characteristic in a compound cranio-facio-corporal syndrome
    • 10.1016/S0007-1226(63)80095-8 1:STN:280:DyaF383gvV2ltA%3D%3D 14017017
    • F. Burian 1963 The 'whistling face' characteristic in a compound cranio-facio-corporal syndrome Brit J Plast Surg 16 140 143 10.1016/S0007- 1226(63)80095-8 1:STN:280:DyaF383gvV2ltA%3D%3D 14017017
    • (1963) Brit J Plast Surg , vol.16 , pp. 140-143
    • Burian, F.1
  • 3
    • 0029807941 scopus 로고    scopus 로고
    • A revised and extended classification of the distal arthrogryposes
    • DOI 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M
    • M. Bamshad L. B. Jorde J. C. Carey 1996 A revised and extended classification of the distal arthrogryposes Am J Med Genet 65 277 281 10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M 1:STN:280:DyaK2s%2Fot1Kquw%3D%3D 8923935 (Pubitemid 26372948)
    • (1996) American Journal of Medical Genetics , vol.65 , Issue.4 , pp. 277-281
    • Bamshad, M.1    Jorde, L.B.2    Carey, J.C.3
  • 4
    • 33646364575 scopus 로고    scopus 로고
    • Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
    • 10.1038/ng1775 1:CAS:528:DC%2BD28XjvVGktr4%3D 16642020
    • R.M. Toydemir A. Rutherford F.G. Whitby, et al. 2006 Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome Nat Genet 38 561 565 10.1038/ng1775 1:CAS:528: DC%2BD28XjvVGktr4%3D 16642020
    • (2006) Nat Genet , vol.38 , pp. 561-565
    • Toydemir, R.M.1    Rutherford, A.2    Whitby, F.G.3
  • 5
    • 33747423657 scopus 로고    scopus 로고
    • Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram
    • DOI 10.1002/pd.1470
    • A. Vimercati M. Scioscia M.G. Burattini, et al. 2006 Prenatal diagnosis of Freeman-Sheldon syndrome and usefulness of an ultrasound fetal lip width normogram Prenat Diagn 26 679 683 10.1002/pd.1470 16715537 (Pubitemid 44252241)
    • (2006) Prenatal Diagnosis , vol.26 , Issue.8 , pp. 679-683
    • Vimercati, A.1    Scioscia, M.2    Burattini, M.G.3    Pontrelli, G.4    Selvaggi, L.E.5
  • 6
    • 0029914666 scopus 로고    scopus 로고
    • Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss
    • DOI 10.1002/(SICI)1096-8628(19960329)62:3<293::AID-AJMG17>3.0.CO;2- F
    • G. Zampino G. Conti F. Balducci, et al. 1996 Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss Am J Med Genet 62 293 296 10.1002/(SICI)1096-8628(19960329)62:3<293::AID- AJMG17>3.0.CO;2-F 1:STN:280:DyaK2s%2FjslWnsQ%3D%3D 8882790 (Pubitemid 26091188)
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  • 7
    • 33645018504 scopus 로고    scopus 로고
    • Clinical characteristics and natural history of Freeman-Sheldon syndrome
    • DOI 10.1542/peds.2005-1219
    • D.A. Stevenson J.C. Carey J. Palumbos, et al. 2006 Clinical characteristics and natural history of Freeman-Sheldon syndrome Pediatrics 117 754 762 10.1542/peds.2005-1219 16510655 (Pubitemid 46063217)
    • (2006) Pediatrics , vol.117 , Issue.3 , pp. 754-762
    • Stevenson, D.A.1    Carey, J.C.2    Palumbos, J.3    Rutherford, A.4    Dolcourt, J.5    Bamshad, M.J.6
  • 8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.