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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

157 related items for PubMed ID: 6499247

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  • 4. Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.
    Campos-Xavier B, Rogers RC, Niel-Bütschi F, Ferreira C, Unger S, Spranger J, Superti-Furga A.
    Am J Med Genet A; 2018 Dec; 176(12):2934-2935. PubMed ID: 30284759
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  • 7. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.
    Smith W, Ji HP, Mouradian W, Pagon RA.
    Am J Med Genet; 1999 Sep 17; 86(3):245-52. PubMed ID: 10482874
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  • 11. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
    Tsirikos AI, Mason DE, Scott CI, Chang WN.
    Am J Med Genet A; 2003 Jun 15; 119A(3):386-90. PubMed ID: 12784311
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  • 15. Spondylo-epi-metaphyseal dysplasia.
    Cormier-Daire V.
    Best Pract Res Clin Rheumatol; 2008 Mar 15; 22(1):33-44. PubMed ID: 18328979
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  • 17. Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
    Borochowitz ZU, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V.
    J Med Genet; 2004 May 15; 41(5):366-72. PubMed ID: 15121775
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  • 18. Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta.
    Goldblatt J, Carman P, Sprague P.
    Am J Med Genet; 1991 May 01; 39(2):170-2. PubMed ID: 2063920
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  • 19. Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
    Dubail J, Rondeau S, Michot C, Baujat G, Capri Y, Thévenon J, Charpie M, Pejin Z, Phan G, Huber C, Cormier-Daire V.
    J Bone Miner Res; 2024 Apr 19; 39(3):287-297. PubMed ID: 38477767
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  • 20. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
    Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM.
    Hum Mutat; 2022 Dec 19; 43(12):2116-2129. PubMed ID: 36150098
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