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Journal Abstract Search

197 related items for PubMed ID: 9028447

  • 1. Mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair: new syndrome?
    Kozlowski K, Krajewska M.
    Am J Med Genet; 1997 Jan 20; 68(2):142-6. PubMed ID: 9028447
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  • 4. Unknown syndrome: mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip.
    Garrett C, Tripp JH.
    J Med Genet; 1988 Apr 20; 25(4):270-2. PubMed ID: 2966861
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  • 5. New type of synpolydactyly of hands and feet in two unrelated males.
    Sugiura Y, Lenz W.
    Am J Med Genet; 1999 Apr 23; 83(5):353-5. PubMed ID: 10232741
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  • 6. Further delineation of the KBG syndrome.
    Devriendt K, Holvoet M, Fryns JP.
    Genet Couns; 1998 Apr 23; 9(3):191-4. PubMed ID: 9777340
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  • 7. Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
    Meinecke P.
    Genet Couns; 1993 Apr 23; 4(2):147-51. PubMed ID: 8395190
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  • 8. Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.
    Silengo M, Lerone M, Romeo G, Calcagno E, Martucciello G, Jasonni V.
    Am J Med Genet; 1993 Nov 01; 47(6):931-3. PubMed ID: 8279493
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  • 9. Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?
    Zerres K, Rietschel M, Rietschel E, Majewski F, Meinecke P.
    J Med Genet; 1992 Apr 01; 29(4):269-71. PubMed ID: 1316441
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  • 10. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: a new syndrome?
    Schinzel A.
    Helv Paediatr Acta; 1979 May 01; 34(2):141-6. PubMed ID: 457430
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  • 11. Associated acral and renal malformations: a new syndrome?
    Curran AS, Curran JP.
    Pediatrics; 1972 May 01; 49(5):716-25. PubMed ID: 4402497
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  • 12. Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?
    Zlotogora J, Zilberman Y, Tenenbaum A, Wexler MR.
    J Med Genet; 1987 May 01; 24(5):291-3. PubMed ID: 3035184
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  • 13. The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement.
    Temtamy SA, Miller JD, Dorst JP, Hussels-Maumenee I, Salinas C, Lacassie Y, Kenyon KR.
    Birth Defects Orig Artic Ser; 1975 May 01; 11(6):133-52. PubMed ID: 1201338
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  • 14. Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature.
    Dai L, Guo H, Meng H, Zhang K, Hu H, Yao H, Bai Y.
    Eur J Pediatr; 2013 Nov 01; 172(11):1467-73. PubMed ID: 23793141
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  • 15. Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.
    Fryns JP, Delooz J, Van Den Berghe H.
    J Med Genet; 1992 Sep 01; 29(9):676-7. PubMed ID: 1404303
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  • 17. A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly.
    Khan F, Arshad A, Majeed AI, Ullah A, Ahmad W.
    Eur J Med Genet; 2019 Aug 01; 62(8):103688. PubMed ID: 31152918
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  • 18. A new craniodigital syndrome with mental retardation.
    Scott CR, Bryant JI, Graham CB.
    J Pediatr; 1971 Apr 01; 78(4):658-63. PubMed ID: 4323269
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  • 19. Choroideremia with polydactyly mimicking the Laurence-Moon-Bardet-Biedl syndrome.
    Schwartz SG, Noble KG, Carr RE.
    Retina; 2003 Jun 01; 23(3):413-5. PubMed ID: 12824850
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  • 20. Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.
    Schinzel A, Schmid W.
    Am J Med Genet; 1980 Jun 01; 6(3):241-9. PubMed ID: 7424976
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