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Journal Abstract Search

157 related items for PubMed ID: 12161821

  • 21. Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
    Khalifa O, Imtiaz F, Al-Sakati N, Al-Manea K, Verloes A, Al-Owain M.
    Eur J Pediatr; 2011 Jan; 170(1):121-6. PubMed ID: 20865280
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  • 22. A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
    Gaboon NEA, Parveen A, Ahmad KA, Shuaib T, Al-Aama JY, Abdelwehab L, Arif A, Wasif N.
    Front Pediatr; 2020 Jan; 8():383. PubMed ID: 32766185
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  • 24. A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.
    Seven M, Koparir E, Gezdirici A, Aydin H, Skladny H, Fenercioğlu E, Güven G, Karataş ÖF, Koparir A, Özen M, Ulucan H.
    Clin Dysmorphol; 2014 Jan; 23(1):1-7. PubMed ID: 24300288
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  • 28. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
    Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR.
    Am J Hum Genet; 2003 Apr; 72(4):1040-6. PubMed ID: 12632327
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  • 29. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus.
    Alshammari MJ, Al-Otaibi L, Alkuraya FS.
    J Med Genet; 2012 Jul; 49(7):455-61. PubMed ID: 22652534
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  • 31. Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.
    Toledo SP, Saldanha PH, Lamego C, Mourão PA, Dietrich CP, Mattar E.
    Am J Med Genet; 1979 Jul; 4(3):255-61. PubMed ID: 117710
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  • 34. [Dyggve-Melchior-Clausen syndrome, diagnostic difficulty due to it similarity to Morquio disease].
    Rodríguez Rodríguez CM, Pineda Marfa M, Duque R, Cormier-Daire V.
    Neurologia; 2007 Mar; 22(2):126-9. PubMed ID: 17323241
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  • 36. [Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene].
    Kuang L, Peng R, Liu B, Xi D, Chang Q, Gao Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr 10; 39(4):370-373. PubMed ID: 35446968
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  • 37. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.
    Diaz GA, Khan KT, Gelb BD.
    Genomics; 1998 Nov 15; 54(1):13-8. PubMed ID: 9806825
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