Article
The role of the SHOX gene in the pathophysiology of Turner syndrome.
Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion - 1 Oct 2011
Oliveira Conceicao S, Alves Cresio
Abstract excerpt
Turner syndrome (TS) affects 1:2500 live females. It is caused by partial or complete absence of a sex chromosome. Patients with deletions of the distal segment of the short arm of X chromosome (Xp-) including haploinsufficiency of the SHOX (short stature homeobox) have, more often, short stature, skeletal abnormalities and hearing impairments. This article evaluates the current knowledge of the SHOX gene role in...
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