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Journal Abstract Search

147 related items for PubMed ID: 21980854

  • 1. Spondyloenchondrodysplasia: a rare cause of short stature.
    Yeşiltepe-Mutlu G, Ozsu E, Cizmecioğlu FM, Alanay Y, Hatun S.
    Turk J Pediatr; 2011; 53(4):464-6. PubMed ID: 21980854
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  • 3. Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
    Kara B, Ekinci Z, Sahin S, Gungor M, Gunes AS, Ozturk K, Adrovic A, Cefle A, Inanç M, Gul A, Kasapcopur O.
    Rheumatol Int; 2020 Nov; 40(11):1903-1910. PubMed ID: 32691099
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  • 5. Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.
    Navarro V, Scott C, Briggs TA, Barete S, Frances C, Lebon P, Maisonobe T, Rice GI, Wouters CH, Crow YJ.
    Am J Med Genet A; 2008 Nov 01; 146A(21):2810-5. PubMed ID: 18924170
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  • 6. Spondyloenchondrodysplasia.
    Menger H, Kruse K, Spranger J.
    J Med Genet; 1989 Feb 01; 26(2):93-9. PubMed ID: 2918547
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  • 7. Possible heterogeneity in spondyloenchondrodysplasia: quadriparesis, basal ganglia calcifications, and chondrocyte inclusions.
    Frydman M, Bar-Ziv J, Preminger-Shapiro R, Brezner A, Brand N, Ben-Ami T, Lachman RS, Gruber HE, Rimoin DL.
    Am J Med Genet; 1990 Jul 01; 36(3):279-84. PubMed ID: 2363422
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  • 9. Spondyloenchondrodysplasia: several phenotypes--the same syndrome.
    Uhlmann D, Rupprecht E, Keller E, Hörmann D.
    Pediatr Radiol; 1998 Aug 01; 28(8):617-21. PubMed ID: 9716637
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  • 14. Unusual bone dysplasia featuring severe platyspondyly and vertebral "coronal cleft" in infancy, and changes of metaphyseal chondrodysplasia in childhood.
    Currarino G.
    Pediatr Radiol; 1986 Aug 01; 16(5):433-6. PubMed ID: 3748653
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  • 15. Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity.
    Nakamura S, Haga N, Shimode M, Taniguchi K, Ikegawa S, Iwaya T.
    Clin Dysmorphol; 1999 Jul 01; 8(3):189-92. PubMed ID: 10457852
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  • 16. de la Chapelle dysplasia.
    Whitley CB, Burke BA, Granroth G, Gorlin RJ.
    Am J Med Genet; 1986 Sep 01; 25(1):29-39. PubMed ID: 3799721
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  • 17. Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.
    Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA.
    Pediatr Rheumatol Online J; 2015 Sep 07; 13(1):37. PubMed ID: 26346816
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  • 18. Spondyloenchondrodysplasia With Immune Dysregulation, but Without Skeletal Dysplasia, in a Six-Year-Old Boy: A Case Report.
    Al-Kateb F, Dyab D, Almadani B, Al-Enezi N.
    Cureus; 2024 May 07; 16(5):e60314. PubMed ID: 38883133
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  • 20. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.
    Smithson SF, Grier D, Hall CM.
    Clin Dysmorphol; 2009 Jan 07; 18(1):31-35. PubMed ID: 19050402
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