Table 2
SHOX point mutations identified in DCS patients
Sequence change
Exon
Protein effect
Family 4
106–107 del CG
2
77X
Family 5
334 C→T
3
Q112X
Family 6
445 G→T
3
E149X
Family 7
481 ins GT
3
181X
Family 8
517 C→T
4
R173C