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2. Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1. Wu K; Li Z; Zhu Y; Wang X; Chen G; Hou Z; Zhang Q BMC Med Genomics; 2021 Jun; 14(1):170. PubMed ID: 34182999 [TBL] [Abstract][Full Text] [Related]
3. Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. Cui YX; Xia XY; Bu Y; Zhou GH; Yang B; Lu HY; Shi YC; Pan LJ; Huang YF; Li XJ Genet Test; 2008 Dec; 12(4):533-6. PubMed ID: 19072565 [TBL] [Abstract][Full Text] [Related]
4. Cleft palate repair in spondyloepiphyseal dysplasia congenita: minimizing the risk of cervical cord compression. Tofield CE; Mackinnon CA Cleft Palate Craniofac J; 2003 Nov; 40(6):629-31. PubMed ID: 14577812 [TBL] [Abstract][Full Text] [Related]
5. Stabilization of the cervical spine in spondyloepiphyseal dysplasia congenita. LeDoux MS; Naftalis RC; Aronin PA Neurosurgery; 1991 Apr; 28(4):580-3. PubMed ID: 2034354 [TBL] [Abstract][Full Text] [Related]
6. Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth. van Buggenhout G; De Smet L; Maroteaux P; Fryns JP Genet Couns; 1998; 9(4):277-81. PubMed ID: 9894165 [TBL] [Abstract][Full Text] [Related]
7. Respiratory complications in children with spondyloepiphyseal dysplasia congenita. Harding CO; Green CG; Perloff WH; Pauli RM Pediatr Pulmonol; 1990; 9(1):49-54. PubMed ID: 2388781 [TBL] [Abstract][Full Text] [Related]
8. Neurosurgical interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and assessment of the literature. Veeravagu A; Lad SP; Camara-Quintana JQ; Jiang B; Shuer L World Neurosurg; 2013; 80(3-4):437.e1-8. PubMed ID: 22381876 [TBL] [Abstract][Full Text] [Related]
9. Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning. Bisht RU; Van Tassel DC; Belthur MV Clin Imaging; 2022 Jun; 86():94-97. PubMed ID: 35397299 [TBL] [Abstract][Full Text] [Related]
10. Molecular prenatal diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita. Xia XY; Cui YX; Huang YF; Pan LJ; Feng Y; Yang B; Li XJ; Zhu PY; Shi YC; Liang Q Clin Chim Acta; 2008 Jan; 387(1-2):153-7. PubMed ID: 17920052 [TBL] [Abstract][Full Text] [Related]
11. Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. Dahiya R; Cleveland S; Megerian CA Ear Nose Throat J; 2000 Mar; 79(3):178-82. PubMed ID: 10743764 [TBL] [Abstract][Full Text] [Related]
14. Spondyloepiphyseal dysplasia congenita: report of one case. Lai SW; Tsai FJ; Tan CK; Lin CC; Peng CT; Tsai CH Acta Paediatr Taiwan; 1999; 40(3):189-91. PubMed ID: 10910613 [TBL] [Abstract][Full Text] [Related]
15. Intra-articular fracture of the knee with spondyloepiphyseal dysplasia congenita: successful result of open reduction and internal fixation. Saegusa M; Nakamura K; Matsushita T; Inokuchi K; Oda H Arch Orthop Trauma Surg; 2002 May; 122(4):241-4. PubMed ID: 12029516 [TBL] [Abstract][Full Text] [Related]
17. Bilateral valgus-extension osteotomy of hip using hybrid external fixator in spondyloepiphyseal dysplasia: early results of a salvage procedure. Shetty GM; Song HR; Lee SH; Kim TY J Pediatr Orthop B; 2008 Jan; 17(1):21-5. PubMed ID: 18043373 [TBL] [Abstract][Full Text] [Related]
18. [Anesthesia for patients with spondyloepiphyseal dysplasia congenita]. Yagi Y; Yamazaki M; Satone T Masui; 1987 May; 36(5):793-6. PubMed ID: 3656650 [No Abstract] [Full Text] [Related]
19. [A case of spondyloepiphyseal dysplasia congenita]. Shi HP; Luo HY; Yan HZ; Lin SZ Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1985 Apr; 7(2):160-2. PubMed ID: 2936507 [No Abstract] [Full Text] [Related]