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Journal Abstract Search

169 related items for PubMed ID: 32755715

  • 1. UFSP2-related spondyloepimetaphyseal dysplasia: A confirmatory report.
    Zhang G, Tang S, Wang H, Pan H, Zhang W, Huang Y, Kong J, Wang Y, Gu J, Wang Y.
    Eur J Med Genet; 2020 Nov; 63(11):104021. PubMed ID: 32755715
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  • 5. Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report.
    Uzman CY, Çankaya T, Güleryüz H, Ülgenalp A, Bozkaya ÖG.
    Skeletal Radiol; 2023 Jan; 52(1):115-118. PubMed ID: 35776137
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  • 7. COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
    Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya T, Nishimura G, Superti-Furga A, Unger S.
    Am J Med Genet A; 2007 Jan 15; 143A(2):161-7. PubMed ID: 17163530
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  • 15. Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature.
    Patel AC, McAlister WH, Whyte MP.
    Medicine (Baltimore); 1993 Sep 15; 72(5):326-42. PubMed ID: 8412645
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  • 16. The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
    Girisha KM, von Elsner L, Neethukrishna K, Muranjan M, Shukla A, Bhavani GS, Nishimura G, Kutsche K, Mortier G.
    Hum Mutat; 2019 Mar 15; 40(3):299-309. PubMed ID: 30488656
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  • 18. Rhizomelic spondyloepimetaphyseal dysplasia.
    Bieganski T, Lipczyk Z, Kozlowski K.
    Clin Dysmorphol; 2001 Oct 15; 10(4):285-8. PubMed ID: 11666005
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