Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V.
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009.
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.
RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
Hordyjewska-Kowalczyk E, Wuyts W, Boeckx N, Verdonck A, Hendrickx G, Mortier G.
Clin Genet. 2024 Apr;105(4):434-439. doi: 10.1111/cge.14474. Epub 2023 Dec 18.
Schmid Metaphyseal Chondrodysplasia.
Richmond CM, Savarirayan R.
2019 Oct 21 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
Cranio-metaphyseal dysplasia.
Gupta D, Sharma OP, Chaudhary AK, Gupta SK.
Australas Radiol. 1993 Feb;37(1):122-5. doi: 10.1111/j.1440-1673.1993.tb00032.x.
[Spondyloepiphyseal and metaphyseal dysplasia].
Wirth T.
Orthopade. 2008 Jan;37(1):8-16. doi: 10.1007/s00132-007-1179-z.
Metaphyseal Dysplasia, Spahr Type; A Case Report of Variable Expressivity in Non-Consanguineous Filipino Siblings.
Panchapakesan K, Roper B, Mowrey K, Hillman P, Younas S.
J Orthop Case Rep. 2022 Sep;12(9):20-25. doi: 10.13107/jocr.2022.v12.i09.2998.
Pyle metaphyseal dysplasia.
Gupta N, Kabra M, Das CJ, Gupta AK.
Indian Pediatr. 2008 Apr;45(4):323-5.
Metaphyseal dysplasia, Spahr type: a mimicker of rickets.
Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR.
BMJ Case Rep. 2019 Aug 13;12(8):e230257. doi: 10.1136/bcr-2019-230257.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.
Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, Karaosmanoglu B, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM.
Hum Mutat. 2022 Dec;43(12):2116-2129. doi: 10.1002/humu.24478. Epub 2022 Oct 8.
