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