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.

Dunger, D B

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