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Journal Abstract Search

156 related items for PubMed ID: 31413057

  • 1. Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
    Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR.
    BMJ Case Rep; 2019 Aug 13; 12(8):. PubMed ID: 31413057
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  • 2. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.
    Bonafé L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le Béchec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A.
    Am J Med Genet A; 2014 May 13; 164A(5):1175-9. PubMed ID: 24648384
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  • 5. Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.
    Diaz Escagedo P, Fiscaletti M, Olivier P, Hudon C, Miranda V, Miron MC, Campeau PM, Alos N.
    BMC Pediatr; 2021 May 22; 21(1):248. PubMed ID: 34022834
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  • 6. [Metaphyseal chondrodysplasia as differential diagnosis to rickets].
    Dahl M, Birkebaek NH.
    Ugeskr Laeger; 1996 Mar 18; 158(12):1683-4. PubMed ID: 8644413
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  • 8. Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.
    Matsumoto H, Hori T, Mori M, Sasai H, Tokuyama T, Yamada T, Ohnishi H.
    Pediatr Int; 2024 Mar 18; 66(1):e15766. PubMed ID: 38973228
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  • 9. Pseudoachondroplastic dysplasia.
    Khungar A, Mahajan P, Gupte G, Vasundhara M, Kher A, Bharucha BA.
    J Postgrad Med; 1993 Mar 18; 39(2):91-3. PubMed ID: 8169872
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  • 10. Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.
    Li D, Weber DR, Deardorff MA, Hakonarson H, Levine MA.
    Eur J Hum Genet; 2015 Feb 18; 23(2):264-6. PubMed ID: 24781753
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  • 11. Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
    Bonilla-Fornés S, Galán-Ledesma L, Pérez PM, Modamio-Høybjør S, Carbonell-Pérez JM, Parrón-Pajares M, Heath KE, Galán-Gómez E.
    Eur J Med Genet; 2021 Oct 18; 64(10):104307. PubMed ID: 34407464
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  • 13. Metaphyseal chondrodysplasia--a differential diagnosis of rickets.
    Vohra P.
    Indian J Pediatr; 1996 Oct 18; 63(1):127-8. PubMed ID: 10829978
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  • 16. Hypophosphatemic rickets in opsismodysplasia.
    Zeger MD, Adkins D, Fordham LA, White KE, Schoenau E, Rauch F, Loechner KJ.
    J Pediatr Endocrinol Metab; 2007 Jan 18; 20(1):79-86. PubMed ID: 17315533
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  • 18. Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.
    Goyal M, Gupta A, Choudhary A, Bhandari A.
    Indian J Pediatr; 2019 Feb 18; 86(2):183-185. PubMed ID: 30209734
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  • 20. Genetic skeletal dysplasia in Thailand: the Siriraj experience.
    Wasant P, Waeteekul S, Rimoin DL, Lachman RS.
    Southeast Asian J Trop Med Public Health; 1995 Feb 18; 26 Suppl 1():59-67. PubMed ID: 8629144
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