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]
- Lancet (London, England) Mar 1986
- 585-7 p. digital
Publication Type: Case Reports; Journal Article
0140-6736
10.1016/s0140-6736(86)92811-4 doi
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