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Paper Details

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Genet Med
0
2022
Author NameAffiliation
Francesca Clementina RadioOspedale Pediatrico Bambino Gesu (Bambino Gesu Pediatric Hospital), IRCCS
Olivia WengerClinic for Special Children
Giuseppe ZampinoCenter for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli (Gemelli University Hospital), IRCCS
Elaine H ZackaiChildren's Hospital of Philadelphia
Dong LiGolisano Children's Hospital and Flaum Eye Institute, University of Rochester Medical Center
Hakon HakonarsonChildren's Hospital of Philadelphia, PA Center for Applied Genomics
Hakon HakonarsonChildren's Hospital of Philadelphia, PA Center for Applied Genomics
Zeynep Coban AkdemirBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
Siddharth BankaSt Mary's Hospital, Manchester University NHS Foundation Trust, University of Manchester
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital
James R LupskiBaylor College of Medicine, TX Texas Children's Hospital
Marco TartagliaOspedale Pediatrico Bambino Gesu (Bambino Gesu Pediatric Hospital), IRCCS
Emma L BapleCollege of Medicine and Health, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, United Kingdom Peninsula Clinical Genetics Service
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