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Journal Abstract Search

291 related items for PubMed ID: 9799302

  • 1. Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?
    Mortier GR, Messiaen LM, Espeel M, Smets KJ, Vanzieleghem BD, Roels F, De Paepe AM.
    Pediatr Radiol; 1998 Oct; 28(10):790-3. PubMed ID: 9799302
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  • 6. Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.
    Toriello HV, Higgins JV, Miller T.
    Am J Med Genet; 1993 Oct 01; 47(5):797-9. PubMed ID: 8267015
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  • 11. Greater trochanteric stippling in trisomy 7p.
    Wilde JR, Teele RL, Aftimos S.
    Pediatr Radiol; 2006 Aug 01; 36(8):863-5. PubMed ID: 16758186
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  • 12. Punctate epiphyses: a radiological sign not a disease.
    Poznanski AK.
    Pediatr Radiol; 1994 Aug 01; 24(6):418-24, 436. PubMed ID: 7700718
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  • 14. Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata.
    Wolpoe ME, Braverman N, Lin SY.
    Arch Otolaryngol Head Neck Surg; 2004 Dec 01; 130(12):1423-6. PubMed ID: 15611404
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  • 15. Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.
    Alkhunaizi E, Unger S, Shannon P, Nishimura G, Blaser S, Chitayat D.
    Am J Med Genet A; 2020 Jul 01; 182(7):1807-1811. PubMed ID: 32506814
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  • 16. Brachytelephalangic chondrodysplasia punctata in a female child.
    Peter MO, Jeandidier E, Maroteaux P.
    J Pediatr Orthop B; 1997 Jan 01; 6(1):24-6. PubMed ID: 9039663
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  • 17. Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.
    Meyer S, Löffler G, Gencik M, Fries P, Papanagiotou P, Oehl-Jaschkowitz B, Gortner L.
    Am J Med Genet A; 2013 Mar 01; 161A(3):626-9. PubMed ID: 23401300
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  • 20. [Chondrodysplasia punctata (Chondrodystrophia calcificans) II. The rhizomelic type].
    Spranger JW, Bidder U, Voelz C.
    Fortschr Geb Rontgenstr Nuklearmed; 1971 Mar 01; 114(3):327-35. PubMed ID: 4995567
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