[Syndrome of contiguous gene deletions in Xp-21 (deficiency of the glycerol-kinase complex). The association of Duchenne muscular dystrophy, glycerol kinase deficiency and congenital suprarenal hypoplasia].
Casado de Frías
E
E
Departamento de Pediatría, Hospital Universitario San Carlos, Madrid.
Ruibal Francisco
J L
JL
Bueno Lozano
G
G
Pinel Simón
G
G
Reverte Blanc
F
F
Benítez Ortiz
J
J
D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D005260:Female; D017353:Gene Deletion; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications*; D013577:Syndrome; D014960:X Chromosome
D005991:Glycerol Kinase
Síndrome de deleción de genes contiguos en Xp-21 (déficit complejo de glicerol-quinasa). Asociación de distrofia muscular de Duchenne, déficit de glicerol-quinasa e hipoplasia suprarrenal congénita.