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Journal Abstract Search

301 related items for PubMed ID: 1308349

  • 1.
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  • 2. A new short rib syndrome: report of two cases.
    Beemer FA, Langer LO, Klep-de Pater JM, Hemmes AM, Bylsma JB, Pauli RM, Myers TL, Haws CC.
    Am J Med Genet; 1983 Jan; 14(1):115-23. PubMed ID: 6829599
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  • 3. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.
    Naguib KK, Gouda SA, Elshafey A, Mohammed F, Bastaki L, Azab AS, Alawadi SA.
    East Mediterr Health J; 2009 Jan; 15(2):345-52. PubMed ID: 19554981
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  • 4. Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
    Miny P, Lenz W.
    Am J Med Genet; 1985 Jun; 21(2):317-24. PubMed ID: 4014313
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  • 7. Acrocallosal syndrome in two African brothers born to consanguineous parents.
    Christianson AL, Venter PA, Du Toit JL, Shipalana N, Gericke GS.
    Am J Med Genet; 1994 Jun 01; 51(2):98-101. PubMed ID: 8092201
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  • 9. A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
    Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S.
    J Bone Miner Res; 2014 Apr 01; 29(4):992-8. PubMed ID: 23996431
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  • 10. Autosomal recessive Robinow syndrome.
    Teebi AS.
    Am J Med Genet; 1990 Jan 01; 35(1):64-8. PubMed ID: 2301471
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  • 12. Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed.
    Tahseen K, Khan S, Uma R, Usha R, Al Ghanem MM, Al Awadi SA, Farag TI.
    Am J Med Genet; 1997 Mar 17; 69(2):126-32. PubMed ID: 9056548
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  • 14. Additional case of opsismodysplasia supporting autosomal recessive inheritance.
    Beemer FA, Kozlowski KS.
    Am J Med Genet; 1994 Feb 01; 49(3):344-7. PubMed ID: 8209898
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  • 17. Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.
    Müller R, Steffensen T, Krstić N, Cain MA.
    Am J Med Genet A; 2021 Jun 01; 185(6):1903-1907. PubMed ID: 33750016
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  • 19. Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome.
    al-Gazali LI, Bakir M, Sadaghatian MR, Nath R, Haas D.
    Clin Dysmorphol; 1999 Apr 01; 8(2):87-92. PubMed ID: 10319196
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