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2023 2
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Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.
Alban JJ, Arango-Ramirez A, Olave-Rodriguez JA, Nastasi-Catanese JA, Rodriguez LX. Alban JJ, et al. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006291. doi: 10.1101/mcs.a006291. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 37591693 Free PMC article.
In reassessing the variant, the absence of this variant in the gnomAD population database, supporting computational predictions, observation in homozygosity in two probands, and specificity of the phenotype for HPGD, all provide sufficient evidence to reclassify the HPGD c …
In reassessing the variant, the absence of this variant in the gnomAD population database, supporting computational predictions, obse …
Progressive metastatic infantile fibrosarcoma with multiple acquired mutations.
Furtado LV, Kacar M, Mostafavi R, Shi Z, Ruiz R, Koo SC, Santiago T, Segers B, Krasin MJ, Abramson ZR, Shulkin B, Talbot LJ, Pappo A, Gartrell J. Furtado LV, et al. Cold Spring Harb Mol Case Stud. 2023 May 9;9(2):a006277. doi: 10.1101/mcs.a006277. Print 2023 Apr. Cold Spring Harb Mol Case Stud. 2023. PMID: 36997313 Free PMC article.
We hypothesize this constellation of mutations contributed to the patient's aggressive clinical course. Taken together, we report the first case of infantile fibrosarcoma with ETV6::NTRK3 and acquired SUFU, TP53, and NTRK F617L gatekeeper mutation along with detailed clini …
We hypothesize this constellation of mutations contributed to the patient's aggressive clinical course. Taken together, we report the …