A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents. [electronic resource]
Producer: 20020418Description: 1062-8 p. digitalISSN:- 0002-9297
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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