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Journal Abstract Search

187 related items for PubMed ID: 9475598

  • 21. Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred.
    Wallis CE.
    Clin Genet; 1988 Oct; 34(4):252-7. PubMed ID: 3233778
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  • 22. Antenatal manifestations of Smith-Lemli-Opitz (RSH) syndrome: a retrospective survey of 30 cases.
    Goldenberg A, Wolf C, Chevy F, Benachi A, Dumez Y, Munnich A, Cormier-Daire V.
    Am J Med Genet A; 2004 Feb 01; 124A(4):423-6. PubMed ID: 14735596
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  • 23. Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
    Ignatius J, Knuutila S, Scherer SW, Trask B, Kere J.
    J Med Genet; 1996 Jun 01; 33(6):507-10. PubMed ID: 8782053
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  • 24. [Smith Lemli Opitz Syndrome type II of neonatal diagnosis and review of the most interesting clinical features].
    Ramírez-Gómara A, Castejón-Ponce E, Martínez-Martínez M, García-Bodega O, Rite-Gracia S, Segura- Arazuri D, López-Pisón J, Baldellou-Vázquez A, Marco-Tello A, López-López A, Rebage-Moisés V.
    Rev Neurol; 1996 Jun 01; 34(10):946-50. PubMed ID: 12134326
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  • 26. Hand-foot-genital syndrome: the importance of hallux varus.
    Cleveland RH, Holmes LB.
    Pediatr Radiol; 1990 Jun 01; 20(5):339-43. PubMed ID: 2349017
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  • 29. [Utility of fetal ultrasonography in the prenatal diagnosis of Smith-Lemli-Opitz syndrome].
    Dubuisson J, Guibaud L, Combourieu D, Massardier J, Raudrant D.
    Gynecol Obstet Fertil; 2008 May 01; 36(5):525-8. PubMed ID: 18462978
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  • 30. Variant RSH/Smith-Lemli-Opitz syndrome with atypical sterol metabolism.
    Anderson AJ, Stephan MJ, Walker WO, Kelley RI.
    Am J Med Genet; 1998 Aug 06; 78(5):413-8. PubMed ID: 9714006
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  • 32. Split hand foot malformation (SHFM).
    Elliott AM, Evans JA, Chudley AE.
    Clin Genet; 2005 Dec 06; 68(6):501-5. PubMed ID: 16283879
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  • 33. Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
    Ryan AK, Bartlett K, Clayton P, Eaton S, Mills L, Donnai D, Winter RM, Burn J.
    J Med Genet; 1998 Jul 06; 35(7):558-65. PubMed ID: 9678700
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  • 36. Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome.
    Prosnitz AR, Leopold J, Irons M, Jenkins K, Roberts AE.
    Congenit Heart Dis; 2017 Jul 06; 12(4):475-483. PubMed ID: 28719049
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  • 37. Cenani-Lenz syndrome: report of a new case and review of the literature.
    Nezarati MM, McLeod DR.
    Clin Dysmorphol; 2002 Jul 06; 11(3):215-8. PubMed ID: 12072805
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  • 38. Biochemical abnormality associated with Smith-Lemli-Opitz syndrome in an infant with features of Rutledge multiple congenital anomaly syndrome confirms that the latter is a variant of the former.
    Rakheja D, Wilson GN, Rogers BB.
    Pediatr Dev Pathol; 2003 Jul 06; 6(3):270-7. PubMed ID: 12717589
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  • 39. Phenotypic diversity in the Smith-Lemli-Opitz syndrome.
    Seller MJ, Flinter FA, Docherty Z, Fagg N, Newbould M.
    Clin Dysmorphol; 1997 Jan 06; 6(1):69-73. PubMed ID: 9018421
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  • 40. [Clinical characteristics and diagnosis of Smith-Lemli-Opitz syndrome and tentative phenotype-genotype correlation: report of 45 cases].
    Goldenberg A, Chevy F, Bernard C, Wolf C, Cormier-Daire V.
    Arch Pediatr; 2003 Jan 06; 10(1):4-10. PubMed ID: 12818773
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