Disorder & Mutation | ||||
---|---|---|---|---|
Source | Disease | |||
Genatlas | tricho-rhino-phalangeal syndrome I,characterized by sparse scalp hair,a bulbous tip of the nose,a long flat philtrum,a thin upper vermilion border and protruding ears,associated with skeletal anomalies including cone-shaped epiphyses at the phalanges,hip malformation and short stature |
TRPS1 cross reference | ||||||
---|---|---|---|---|---|---|
|