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pseudoachondroplasia相关文献:
COMP-Related Pseudoachondroplasia.
Briggs MD, Wright MJ.
2004 Aug 20 [updated 2023 Nov 30]. 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:20301660
Pseudoachondroplasia associated with os odontoideum and retro-odontoid mass: case-based update.
Cuthbert HJ, Cuthbert RC, Elmaghraby M, Afshari FT, Solanki GA.
Childs Nerv Syst. 2024 Nov 28;41(1):9. doi: 10.1007/s00381-024-06679-z.
PMID:39607510
Pseudoachondroplasia/COMP - translating from the bench to the bedside.
Posey KL, Alcorn JL, Hecht JT.
Matrix Biol. 2014 Jul;37:167-73. doi: 10.1016/j.matbio.2014.05.006. Epub 2014 Jun 2.
PMID:24892720
Novel therapeutic interventions for pseudoachondroplasia.
Posey KL, Hecht JT.
Bone. 2017 Sep;102:60-68. doi: 10.1016/j.bone.2017.03.045. Epub 2017 Mar 21.
PMID:28336490
Orthopaedic manifestations of pseudoachondroplasia.
Weiner DS, Guirguis J, Makowski M, Testa S, Shauver L, Morgan D.
J Child Orthop. 2019 Aug 1;13(4):409-416. doi: 10.1302/1863-2548.13.190066.
PMID:31489048
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
Jacob P, Bhavani GSL, Shah H, Galada C, Nampoothiri S, Kamath N, Phadke SR, Muranjan M, Datar CA, Shukla A, Girisha KM.
Am J Med Genet A. 2022 Mar;188(3):751-759. doi: 10.1002/ajmg.a.62566. Epub 2021 Nov 9.
PMID:34750995
Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
Unger S, Hecht JT.
Am J Med Genet. 2001 Winter;106(4):244-50.
PMID:11891674
Gonadal mosaicism in pseudoachondroplasia.
Hall JG, Dorst JP, Rotta J, McKusick VA.
Am J Med Genet. 1987 Sep;28(1):143-51. doi: 10.1002/ajmg.1320280121.
PMID:3314506
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
Briggs MD, Chapman KL.
Hum Mutat. 2002 May;19(5):465-78. doi: 10.1002/humu.10066.
PMID:11968079
Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis.
Matsumoto H, Hori T, Mori M, Sasai H, Ohnishi H.
Pediatr Int. 2024 Jan-Dec;66(1):e15799. doi: 10.1111/ped.15799.
PMID:39087399
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