Bilateral Panner’s disease in sickle cell anaemia: Case report von King, TW, Le Quesne, HC, Norrish, AR

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An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes von Le Quesne Stabej, P, James, C, Ocaka, L, Tekman, M, Grunewald, S, Clement, E, Stanescu, HC, Kleta, R, Morrogh, D, Calder, A, Williams, HJ, Bitner-Glindzicz, M

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STAG3 truncating variant as the cause of primary ovarian insufficiency von Le Quesne Stabej, P, Williams, HJ, James, C, Tekman, M, Stanescu, HC, Kleta, R, Ocaka, L, Lescai, F, Storr, HL, Bitner-Glindzicz, M, Bacchelli, C, Conway, GS, GOSgene

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