2020 Mar 19. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
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.
AJR Am J Roentgenol. 1977 Jan;128(1):89-93. doi: 10.2214/ajr.128.1.89.
PMID:401596
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.