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Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome.
Jensen MLN, Mathiasen VD, Ifversen M, Nielsen JSA. Jensen MLN, et al. BMJ Case Rep. 2020 Dec 21;13(12):e236521. doi: 10.1136/bcr-2020-236521. BMJ Case Rep. 2020. PMID: 33370941 Free PMC article.
She had a history of occasional finger warts and onychomycoses. During hospitalisation, the patient was diagnosed with Emberger syndrome caused by GATA2 deficiency. The admission was complicated by thromboses in the right hand, leading to amputation of multiple fingers. .. …
She had a history of occasional finger warts and onychomycoses. During hospitalisation, the patient was diagnosed with Emberger syndr …
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.
Holme H, Hossain U, Kirwan M, Walne A, Vulliamy T, Dokal I. Holme H, et al. Br J Haematol. 2012 Jul;158(2):242-248. doi: 10.1111/j.1365-2141.2012.09136.x. Epub 2012 Apr 26. Br J Haematol. 2012. PMID: 22533337 Free article.
Five of the 27 families had telomerase mutations; one had a RUNX1 mutation, while none were found to have TET2, CEBPA or NPM1 mutations. We identified four families with heterozygous GATA2 mutations, each associated with a different phenotype. While one of these mutations …
Five of the 27 families had telomerase mutations; one had a RUNX1 mutation, while none were found to have TET2, CEBPA or NPM1 mutatio …
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.
Kazakov DV, Vanecek T, Zelger B, Carlson JA, Spagnolo DV, Schaller J, Nemcova J, Kacerovska D, Vazmitel M, Sangüeza M, Emberger M, Belousova I, Fernandez-Figueras MT, Kempf W, Meyer DR, Rütten A, Baltaci M, Michal M. Kazakov DV, et al. Am J Dermatopathol. 2011 May;33(3):251-65. doi: 10.1097/DAD.0b013e3181f7d373. Am J Dermatopathol. 2011. PMID: 21389835
Aside from typical features of TE, some also exhibited variant morphological patterns including areas reminiscent of other benign adnexal neoplasms and melanocytic hyperplasia. In none of the 9 patients tested was a germline mutation of the PTCH gene identified. ...
Aside from typical features of TE, some also exhibited variant morphological patterns including areas reminiscent of other benign adnexal ne …