Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
Debeer
P
P
Bacchelli
C
C
Scambler
P J
PJ
De Smet
L
L
Fryns
J-P
JP
Goodman
F R
FR
D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010455:Peptides / Q000235:genetics; D017689:Polydactyly / Q000235:genetics; D013576:Syndactyly / Q000235:genetics; D014034:Toes / Q000002:abnormalities; D014157:Transcription Factors; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D010455:Peptides; D014157:Transcription Factors; C099959:homeobox protein HOXA13; C019529:polyalanine; D004247:DNA