Taming the Medical Literature ~ For Genetic Conditions ~ Hand-Curated • Direct to You
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Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.
Trupiano N, Koeppe E, Jacobs MF, Else T, Cha KB.
JAAD Case Rep. 2022 Nov 7 [eCollection 2023 Jan];31:42-45. doi: 10.1016/j.jdcr.2022.10.034.