Abstract

GUERRERO-LUGO, Nelsis; ROMERO-BARZOLA, María Yamina  and  SIERRA-SANTOS, Lucía. SHOX gene alteration: a frequent cause of constitutional delay of growth and development. Rev Clin Med Fam [online]. 2018, vol.11, n.3, pp.172-175.  Epub Oct 01, 2019. ISSN 2386-8201.

Growth is a multifactorial and complexprocess which is genetically determined. In recent years a growing number of genes involved in the etiology of short stature have been described, one of which is the SHOX gene (Short Stature Homeobox), located on the short arms of the X and Y chromosomes, responsible for longitudinal growth, and whose alteration (deficit) has been related to short stature in Turner syndrome. In this article, we present 3 cases with alteration in the SHOX gene, belonging to the same heterozygous family, suspected in Primary Care.

Keywords : SHOX Protein; Growth Disorders; Failure to Thrive.

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