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2. Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia. Al Kaissi A; Ghachem MB; Nessib N; Chehida FB; Hammou A; Kozlowski K Australas Radiol; 2005 Feb; 49(1):57-62. PubMed ID: 15727611 [TBL] [Abstract][Full Text] [Related]
3. Spondylo-epi-metaphyseal dysplasia with normal stature: a case followed from infancy to skeletal maturity. Nakamura S; Haga N; Shimode M; Taniguchi K; Ikegawa S; Iwaya T Clin Dysmorphol; 1999 Jul; 8(3):189-92. PubMed ID: 10457852 [TBL] [Abstract][Full Text] [Related]
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5. A female case of Sedaghatian type spondylometaphyseal dysplasia. Foulds N; Fairhurst J; Temple IK; Cade S; Groves C; Lancaster T Am J Med Genet A; 2003 May; 118A(4):377-81. PubMed ID: 12687672 [TBL] [Abstract][Full Text] [Related]
11. A rare form of spondylometaphyseal dysplasia-type A4. Duetting T; Schulze A; Troeger J; Spranger J Am J Med Genet; 1998 Jun; 78(1):61-6. PubMed ID: 9637426 [TBL] [Abstract][Full Text] [Related]
12. A new type of spondylo-metaphyseal dysplasia--Algerian type. Report of five cases. Kozlowski K; Bacha L; Massen R; Ayati M; Sator S; Brahimi L Pediatr Radiol; 1988; 18(3):221-6. PubMed ID: 3368247 [TBL] [Abstract][Full Text] [Related]
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14. Spondylometaphyseal dysplasia with cone-rod dystrophy. Turell M; Morrison S; Traboulsi EI Ophthalmic Genet; 2010 Mar; 31(1):12-7. PubMed ID: 20141353 [TBL] [Abstract][Full Text] [Related]
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19. Unusual cone shaped epiphyses in spondyloepiphyseal dysplasia. Case report. Perri G; Vichi G; Pacini M; Jenuso R; Bartolozzi G; Calzolari C Pediatr Radiol; 1987; 17(3):223-5. PubMed ID: 3588070 [TBL] [Abstract][Full Text] [Related]
20. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Savoldi G; Izzi C; Signorelli M; Bondioni MP; Romani C; Lanzi G; Moratto D; Verdoni L; Pinotti M; Prefumo F; Superti-Furga A; Pilotta A Am J Med Genet A; 2013 Oct; 161A(10):2614-9. PubMed ID: 23950054 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]