Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations.
Holder-Espinasse
M
M
Escande
F
F
Mayrargue
E
E
Dieux-Coeslier
A
A
Fron
D
D
Doual-Bisser
A
A
Boute-Benejean
O
O
Robert
Y
Y
Porchet
N
N
Manouvrier-Hanu
S
S
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D055428:Growth Differentiation Factor 5; D006228:Hand Deformities, Congenital / Q000473:pathology; D006615:Hip / Q000002:abnormalities*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D014071:Tooth Abnormalities / Q000473:pathology*
D019485:Bone Morphogenetic Proteins; D055428:Growth Differentiation Factor 5