P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis
| Autor: | Biddle, Joseph, Campbell, Teresa, Sanchis-Juan, Alba, Lemire, Gabrielle, Rodan, Lance, O'Leary, Melanie, Austin-Tse, Christina, O'Donnell-Luria, Anne, Sadler, Laurie |
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| Zdroj: | In Genetics in Medicine Open 2024 2 Supplement 1 |
| Databáze: | ScienceDirect |
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