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

Raas-Rothschild, Annick

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. [electronic resource] - American journal of human genetics Apr 2002 - 1062-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0002-9297

10.1086/339766 doi


ATPases Associated with Diverse Cellular Activities
Adenosine Triphosphatases--genetics
Adult
Cells, Cultured
Child, Preschool
DNA Mutational Analysis
Fatal Outcome
Female
Fibroblasts
Genetic Complementation Test
Hearing Loss, Sensorineural--genetics
Humans
Infant
Infant, Newborn
Liver--pathology
Male
Mosaicism
Peroxisomal Disorders--genetics
Phenotype
Retinitis Pigmentosa--genetics
Syndrome
Temperature