A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents
Author:
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
Publication:
The American Journal of Human Genetics
Copyright © 2002 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.