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A large pedigree with Lesch-Nyhan disease, showing x-linked transmission

Note that males in multiple generations are affected, but obligate female carriers are unaffected. (Source: Laróvere LE, Fairbanks LD, Jinnah HA, et al. Lesch-Nyhan disease and its variants: phenotypic and mutation spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency in argentine patients. J Inborn Errors Metab Screen 2021;9:e20200027. Creative Commons Attribution License. Figure edited by Douglas J Lanska MD MS MSPH.)

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