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Journal Abstract Search
183 related items for PubMed ID: 2240023
1. Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome? Petrella R, Ludman MD, Rabinowitz JG, Gilbert F, Hirschhorn K. Am J Med Genet; 1990 Sep; 37(1):10-4. PubMed ID: 2240023 [Abstract] [Full Text] [Related]
7. New mesomelic dysplasia with absent fibulae and triangular tibiae. Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, Lachman RS. Am J Med Genet; 2000 Sep 04; 94(1):59-63. PubMed ID: 10982484 [Abstract] [Full Text] [Related]
8. New type of autosomal recessive short-limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence. Kohn G, Veder M, Schoenfeld A, el Shawwa R. Am J Med Genet; 1989 Dec 04; 34(4):535-40. PubMed ID: 2624264 [Abstract] [Full Text] [Related]
9. Concomitant rhomboid-shaped tibiae and fibulae, finger-like projections, and orthopedic management in a new variant of nievergelt syndrome: A case report. Pehlivanoğlu T, Demirel M, Sağlam Y, Balci Hİ, Durmaz H. Int J Surg Case Rep; 2018 Dec 04; 42():109-115. PubMed ID: 29245094 [Abstract] [Full Text] [Related]
10. Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder. Kantaputra PN, Gorlin RJ, Langer LO. Am J Med Genet; 1992 Dec 01; 44(6):730-7. PubMed ID: 1481840 [Abstract] [Full Text] [Related]
11. Patient with the mesomelic dysplasia, Nievergelt syndrome, and cerebellovermian agenesis and cataracts. Tüysüz B, Zeybek C, Zorer G, Sipahi O, Ungür S. Am J Med Genet; 2002 May 01; 109(3):206-10. PubMed ID: 11977180 [Abstract] [Full Text] [Related]
12. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M. J Med Genet; 2015 Jul 01; 52(7):476-83. PubMed ID: 26032025 [Abstract] [Full Text] [Related]
19. A case of mesomelic dysplasia Kantaputra type--new findings and a new diagnostic approach. Siwicka KA, Kitoh H, Nishiyama M, Ishiguro N. J Pediatr Orthop B; 2008 Sep 01; 17(5):271-6. PubMed ID: 19471182 [Abstract] [Full Text] [Related]
20. Longitudinal tibial epiphyseal bracket in Nievergelt syndrome. Burnstein MI, De Smet AA, Breed AL, Thomas JR, Hafez GR. Skeletal Radiol; 1989 Sep 01; 18(2):121-5. PubMed ID: 2717950 [Abstract] [Full Text] [Related] Page: [Next] [New Search]