- Camptodactyly, tall stature, and
hearing loss syndrome, also
known as
CATSHL syndrome, is a rare
genetic disorder which consists of camptodactyly, tall...
- 000
CADASIL syndrome NOTCH3 P 1:156,000,000 Cat eye
syndrome 22 1:74,000
CATSHL syndrome FGFR3 dominant/recessive
CRASIL syndrome HTRA1 1:156,000,000 Chronic...
-
mutation in FGFR3
causes camptodactyly, tall stature, and
hearing loss (
CATSHL) syndrome". Am J Hum Genet. 79 (5): 935–41. doi:10.1086/508433. PMC 1698566...
- pulverulent-3; 601885; GJA3 Cataract-microcornea syndrome; 116150; GJA8
CATSHL syndrome; 610474; FGFR3
Caudal duplication anomaly; 607864; AXIN1 Caudal...
