Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy. [electronic resource]
Producer: 19860416Description: 585-7 p. digitalISSN:- 0140-6736
- Adrenal Insufficiency -- genetics
- Child
- Child, Preschool
- Chromosome Banding
- Chromosome Deletion
- DNA -- analysis
- Glycerol -- blood
- Glycerol Kinase -- deficiency
- Humans
- Intellectual Disability -- complications
- Male
- Muscular Dystrophies -- genetics
- Phosphotransferases -- deficiency
- Sex Chromosome Aberrations -- genetics
- Triglycerides -- blood
- X Chromosome
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Publication Type: Case Reports; Journal Article
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