Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome.

Cole, D E

Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. [electronic resource] - Clinical chemistry Nov 1994 - 2099-103 p. digital

Publication Type: Case Reports; Journal Article

0009-9147


Adrenal Insufficiency--genetics
Blotting, Southern
Chromosome Mapping
Gene Deletion
Glycerol--blood
Glycerol Kinase--deficiency
Humans
Infant, Newborn
Karyotyping
Male
Muscular Dystrophies--genetics
Polymerase Chain Reaction
X Chromosome