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Journal Abstract Search

132 related items for PubMed ID: 11102922

  • 21. Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.
    Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL.
    Am J Med Genet; 1993 Aug 15; 47(2):272-7. PubMed ID: 8213919
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  • 23. The oto-palato-digital syndrome: variable clinical expressions.
    Zaytoun GM, Harboyan G, Kabalan W.
    Otolaryngol Head Neck Surg; 2002 Feb 15; 126(2):129-40. PubMed ID: 11870342
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  • 27. [A case of type II achondrogenesis].
    Micheli E, Perrone C, Quarta Colosso L, Vetrugno M, Zecca G, Indirli GC, Greco F, Elia G, Ciancio S.
    Pediatr Med Chir; 1996 Feb 15; 18(1):105-7. PubMed ID: 8685014
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  • 29. Microcephalic osteodysplastic dysplasia.
    Hersh JH, Joyce MR, Spranger J, Goatley EC, Lachman RS, Bhatt S, Rimoin DL.
    Am J Med Genet; 1994 Jul 01; 51(3):194-9. PubMed ID: 8074143
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  • 32. Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review.
    Li Z, Xie Y, Xiao Q, Wang L.
    J Dermatol; 2020 Mar 01; 47(3):295-299. PubMed ID: 31919883
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  • 34. Vertebral defects in a patient with Feingold syndrome.
    Kellermayer R, Weisenbach J, Gyuris P, Aszmann M, Kosztolányi G.
    Clin Dysmorphol; 2005 Oct 01; 14(4):213-214. PubMed ID: 16155427
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  • 35. Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome).
    Becerra-Solano LE, Chacon L, Morales-Mata D, Ramírez-Dueñas Mde L, García-Ortiz JE.
    Clin Dysmorphol; 2015 Jan 01; 24(1):1-6. PubMed ID: 25304117
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  • 36. Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type.
    d'Orey MC, Mateus M, Guimarães H, Miguel C, Costeira MJ, Nogueira R, Montenegro N, Santos NT, Maroteaux P.
    Pediatr Radiol; 1997 Dec 01; 27(12):948-50. PubMed ID: 9388290
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  • 37. Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation.
    Korniszewski L, Arbuckle S, Kozlowski K.
    Am J Med Genet A; 2003 May 01; 118A(4):343-9. PubMed ID: 12687665
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  • 38. Oto-palato-digital syndrome type II.
    Stoll C, Alembik Y.
    Genet Couns; 1994 May 01; 5(1):61-6. PubMed ID: 8031537
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