Article
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature.
European journal of pediatrics - 1 Sept 2001
Musebeck J, Mohnike K, Beye P, Tönnies H, Neitzel H, Schnabel D, Grüters A, Wieacker P F, Stumm M
Abstract excerpt
UNLABELLED: The short stature homeobox-containing gene (SHOX) on the short arm of the X and Y chromosomes is an important determining factor of stature phenotype. Absence of the SHOX gene is a main cause for short stature in patients with Turner syndrome. Mutations of the SHOX gene can also be responsible for Léri-Weill syndrome (dyschondrosteosis). The aim of this study was to determine the frequency of SHOX...
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