A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

✍ Scribed by Annick Raas-Rothschild; Ronald J.A. Wanders; Petra A.W. Mooijer; Jeannette Gootjes; Hans R. Waterham; Alisa Gutman; Yasuyuki Suzuki; Nobuyuki Shimozawa; Naomi Kondo; Gideon Eshel; Marc Espeel; Frank Roels; Stanley H. Korman

• Book ID: 117853870
• Publisher: American Society of Human Genetics
• Year: 2002
• Tongue: English
• Weight: 293 KB
• Volume: 70
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/339766