SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.
Falcinelli
C
C
Cattedra di Genetica Medica, Università di Modena, Via del Pozzo 71, 41100 Modena, Italy.
Iughetti
L
L
Percesepe
A
A
Calabrese
G
G
Chiarelli
F
F
Cisternino
M
M
De Sanctis
L
L
Pucarelli
I
I
Radetti
G
G
Wasniewska
M
M
Weber
G
G
Stuppia
L
L
Bernasconi
S
S
Forabosco
A
A
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation; D000074122:Short Stature Homeobox Protein
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein