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Genetics in Medicine Open
(Jan 2024)
P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis
Joseph Biddle,
Teresa Campbell,
Alba Sanchis-Juan,
Gabrielle Lemire,
Lance Rodan,
Melanie O'Leary,
Christina Austin-Tse,
Anne O'Donnell-Luria,
Laurie Sadler
Affiliations
Joseph Biddle
Division of Genetics, Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo, Buffalo, NY
Teresa Campbell
Division of Genetics, Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo, Buffalo, NY
Alba Sanchis-Juan
Broad Institute of MIT and Harvard, Cambridge, MA, Massachusetts General Hospital, Boston, MA, Harvard Medical School, Boston, MA
Gabrielle Lemire
Broad Institute of MIT and Harvard, Cambridge, MA
Lance Rodan
Harvard Medical School, Boston, MA
Melanie O'Leary
Broad Institute of MIT and Harvard, Cambridge, MA
Christina Austin-Tse
Broad Institute of MIT and Harvard, Cambridge, MA, Massachusetts General Hospital, Boston, MA, Boston Children’s Hospital, Boston, MA
Anne O'Donnell-Luria
Broad Institute of MIT and Harvard, Cambridge, MA, Massachusetts General Hospital, Boston, MA, Harvard Medical School, Boston, MA
Laurie Sadler
Division of Genetics, Department of Pediatrics, Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo, Buffalo, NY
Journal volume & issue
Vol. 2
p. 101136
Abstract
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