Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
Giordano
N
N
Gennari
L
L
Bruttini
M
M
Mari
F
F
Meloni
I
I
Baldi
C
C
Capoccia
S
S
Geraci
S
S
Merlotti
D
D
Amendola
A
A
Martini
G
G
Nuti
R
R
Gennari
C
C
Renieri
A
A
D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000473:pathology; D053823:Hedgehog Proteins; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D015534:Trans-Activators / Q000235:genetics*
D053823:Hedgehog Proteins; D015534:Trans-Activators; D004247:DNA