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Co-occurrence of an HSPG2 Missense Variant and Functional Polymorphisms in Atypical Schwartz–Jampel Syndrome Type 1 with Obesity: A Case Report
Maini, Ilenia, Farnetti, Enrico, Nicoli, Davide, Pavlidis, Elena, Spagnoli, Carlotta, Salerno, Grazia, Frattini, Daniele, Iodice, Alessandro, Fusco, CarloLanguage:
english
Journal:
Journal of Pediatric Neurology
DOI:
10.1055/s-0038-1668163
Date:
August, 2018
File:
PDF, 2.06 MB
english, 2018