What syndrome is this? Lesch-Nyhan syndrome.
Schepis
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Department of Pediatrics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
Greco
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D
Siragusa
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M
Romano
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C
D002648:Child; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D017354:Point Mutation; D014960:X Chromosome / Q000235:genetics
D007041:Hypoxanthine Phosphoribosyltransferase