your information resource in human molecular genetics
In an article published in the American Journal of Human Genetics Vol. 79, pp.935-941), R.M. Toydemir et al., mapped the locus causing a novel disorder characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL syndrome) to chromosome 4p. Their findings indicate that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth.
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