SHOX point mutations in dyschondrosteosis.
Huber
C
C
Cusin
V
V
Le Merrer
M
M
Mathieu
M
M
Sulmont
V
V
Dagoneau
N
N
Munnich
A
A
Cormier-Daire
V
V
D001827:Body Height / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016368:Frameshift Mutation / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D000074122:Short Stature Homeobox Protein
D018389:Codon, Nonsense; D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein