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spondyloepiphyseal dysplasia相关文献:
Spondyloepiphyseal Dysplasia Tarda.
Bencherifa S, Mounach A, Bezza A.
J Clin Rheumatol. 2021 Dec 1;27(8S):S498-S499. doi: 10.1097/RHU.0000000000001167.
PMID:31693650
Loss of DDRGK1 impairs IRE1alpha UFMylation in spondyloepiphyseal dysplasia.
Yang X, Zhou T, Wang X, Xia Y, Cao X, Cheng X, Cao Y, Ma P, Ma H, Qin A, Zhao J.
Int J Biol Sci. 2023 Sep 4;19(15):4709-4725. doi: 10.7150/ijbs.82765. eCollection 2023.
PMID:37781516
Multiple disc herniation in spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature.
Chen Z, Zhang Z, Ye F, Lei F, Feng D.
BMC Musculoskelet Disord. 2022 Dec 13;23(1):1087. doi: 10.1186/s12891-022-06064-4.
PMID:36514046
[Spondyloepiphyseal and metaphyseal dysplasia].
Wirth T.
Orthopade. 2008 Jan;37(1):8-16. doi: 10.1007/s00132-007-1179-z.
PMID:18210084
Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W.
Eur Spine J. 2016 Sep;25(9):2967-74. doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8.
PMID:27059630
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family.
Ma J, Zhang Y, Ding X, Liang Z, Yang C, Deng Z, He H, Guan Z, Zeng C, Lin Y, Luo X.
Calcif Tissue Int. 2023 Sep;113(3):266-275. doi: 10.1007/s00223-023-01104-0. Epub 2023 Jun 6.
PMID:37278761
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. doi: 10.1016/j.clinimag.2022.03.019. Epub 2022 Mar 30.
PMID:35397299
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
Gourgas O, Lemire G, Eaton AJ, Alshahrani S, Duker AL, Li J, Carroll RS, Mackenzie S, Nikkel SM; Care4Rare Canada Consortium; Bober MB, Boycott KM, Murshed M.
Nat Commun. 2023 Nov 3;14(1):7054. doi: 10.1038/s41467-023-41651-6.
PMID:37923733
Spondyloepiphyseal dysplasia congenita.
Spranger JW, Langer LO Jr.
Radiology. 1970 Feb;94(2):313-22. doi: 10.1148/94.2.313.
PMID:5412797
Osteochondrodysplasia.
Liu A, McEntee J.
Pediatr Rev. 2019 Aug;40(8):435-438. doi: 10.1542/pir.2017-0340.
PMID:31371639
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