Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene.
Iughetti
Lorenzo
L
Sobrier
Marie-Laure
ML
Predieri
Barbara
B
Netchine
Irene
I
Carani
Cesare
C
Bernasconi
Sergio
S
Balli
Fiorella
F
Amselem
Serge
S
D000293:Adolescent; D000365:Age Determination by Skeleton; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004393:Dwarfism, Pituitary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000172:deficiency* / Q000235:genetics* / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010641:Phenotype; D035781:Siblings
D019382:Human Growth Hormone