Leprechaunism and homozygous nonsense mutation in the insulin receptor gene.
Psiachou
H
H
Mitton
S
S
Alaghband-Zadeh
J
J
Hone
J
J
Taylor
S I
SI
Sinclair
L
L
D000015:Abnormalities, Multiple / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D009154:Mutation; D011972:Receptor, Insulin / Q000235:genetics*
D011972:Receptor, Insulin