Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
Kirkpatrick
T J
TJ
Au
K-S
KS
Mastrobattista
J M
JM
McCready
M E
ME
Bulman
D E
DE
Northrup
H
H
D001827:Body Height / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D004627:Embryonic Induction / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D005819:Genetic Markers / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D053823:Hedgehog Proteins; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*
D005819:Genetic Markers; D053823:Hedgehog Proteins; D015534:Trans-Activators