A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

American Journal of Human Genetics

Volumn 70, Issue 4, 2002, Pages 1062-1068

  Raas Rothschild, Annick ^a   Wanders, Ronald J A ^b   Mooijer, Petra A W ^b   Gootjes, Jeannette ^b   Waterham, Hans R ^b   Gutman, Alisa ^a   Korman, Stanley H ^a   Suzuki, Yasuyuki ^c   Shimozawa, Nobuyuki ^c   Kondo, Naomi ^c   Eshel, Gideon ^d   Espeel, Marc ^e   Roels, Frank ^e  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d ASSAF HAROFEH MEDICAL CENTER   (Israel)

^e GHENT UNIVERSITY   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOGENESIS; CASE REPORT; DISEASE SEVERITY; GENE TARGETING; GENETIC SCREENING; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; INFANT; MALE; PERCEPTION DEAFNESS; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RETINITIS PIGMENTOSA; USHER SYNDROME;

EID: 18344372175     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/339766     Document Type: Article

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