Severe SHOX gene haploinsufficiency in a girl with a novel mutation (M1T) involving the first codon of coding region.
Wasniewska
M
M
Raiola
G
G
Nicoletti
A
A
Galati
M C
MC
Messina
M F
MF
Mirabelli
S
S
De Luca
F
F
D001483:Base Sequence; D002648:Child; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000074122:Short Stature Homeobox Protein
D003062:Codon; D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein