Last update 19 Sep 2024

Short Stature Homeobox Deficiency

Basic Info

Synonyms
SHOX Deficiency, Short Stature Homeobox Deficiency
Introduction
A rare genetic deficiency characterized by mutations in the SHOX gene and reduced expression or function of the SHOX protein. It results in the disruption of normal bone development and growth starting before birth. It manifests with skeletal abnormalities and short stature.

Related

100 Clinical Results associated with Short Stature Homeobox Deficiency
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100 Translational Medicine associated with Short Stature Homeobox Deficiency
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0 Patents (Medical) associated with Short Stature Homeobox Deficiency
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