Article
Deletion of the SHOX gene in patients with short stature of unknown cause.
American journal of medical genetics. Part A - 15 Jun 2003
Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi M M, Scarano G, Concolino D, Giannotti A, Verrotti A, Chiarelli F, Calabrese G, Palka G
Abstract excerpt
A fluorescence in situ hybridization (FISH) study was performed in 56 patients with short stature of unknown cause in order to establish the role of deletion of the SHOX gene in this population. FISH analysis was carried out on metaphase spreads and interphase lymphocytes from blood smears using a probe specific for the SHOX gene. Deletion of SHOX was found in four patients (7.1%). No skeletal abnormalities were...
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