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metaphyseal dysplasia 相关文献:
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.
PMID:18328979
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
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.
PMID:8323501
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.
PMID:38108099
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; 1993–2024.
PMID:31633898
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.
PMID:36873332
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.
PMID:31413057
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.
PMID:36150098
[Spondyloepiphyseal and metaphyseal dysplasia].
Wirth T.
Orthopade. 2008 Jan;37(1):8-16. doi: 10.1007/s00132-007-1179-z.
PMID:18210084
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP.
Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29.
PMID:30503519
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