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spondylometaphyseal dysplasia相关文献:
Spondylometaphyseal Dysplasia, Corner Fracture Type.
England J, Campeau PM.
2020 Mar 19 [updated 2025 May 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:32200603
Sedaghatian spondylometaphyseal dysplasia in two siblings.
Peshimam N, Farah H, Caswell R, Ellard S, Jan W, Calder AD, Cobben J, Kariholu U, Leitch HG.
Eur J Med Genet. 2022 Aug;65(8):104541. doi: 10.1016/j.ejmg.2022.104541. Epub 2022 Jun 16.
PMID:35718083
Spondylometaphyseal dysplasia-Sedaghatian type.
Elçioglu N, Hall CM.
Am J Med Genet. 1998 Apr 13;76(5):410-4.
PMID:9556300
GPX4 in cell death, autophagy, and disease.
Xie Y, Kang R, Klionsky DJ, Tang D.
Autophagy. 2023 Oct;19(10):2621-2638. doi: 10.1080/15548627.2023.2218764. Epub 2023 Jun 4.
PMID:37272058
Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.
Faye E, Modaff P, Pauli R, Legare J.
Mol Syndromol. 2019 May;10(3):154-160. doi: 10.1159/000495778. Epub 2018 Dec 21.
PMID:31191204
Spondylometaphyseal dysplasia.
Le Quesne GW, Kozlowski K.
Br J Radiol. 1973 Sep;46(549):685-91. doi: 10.1259/0007-1285-46-549-685.
PMID:4199241
Spondylometaphyseal dysplasia.
Thomas PS, Nevin NC.
AJR Am J Roentgenol. 1977 Jan;128(1):89-93. doi: 10.2214/ajr.128.1.89.
PMID:401596
Spondylometaphyseal dysplasia: an uncommon disease.
Duarte ML, Duarte ÉR, Solorzano DB, Solorzano EB, Ferreira JB.
Radiol Bras. 2017 Jan-Feb;50(1):63. doi: 10.1590/0100-3984.2015.0159.
PMID:28298736
Axial spondylometaphyseal dysplasia.
Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.
Eur J Pediatr. 1997 Aug;156(8):627-30. doi: 10.1007/s004310050679.
PMID:9266195
A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in COL2A1.
Cammarata-Scalisi F, Matysiak U, Willoughby CE, Ruzaike G, Cárdenas Tadich A, Araya Castillo M, Zara-Chirinos C, Bracho A, Avendaño A, Jilani H, Callea M.
J Pediatr Genet. 2021 Jul 26;12(4):339-341. doi: 10.1055/s-0041-1732474. eCollection 2023 Dec.
PMID:38162154
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