short stature—idiopathic—X-linked
EMBRYOLOGY
Definition A condition (OMIM:300582) defined by a standing height > 2 standard deviations below the mean (or < 2.5 percentile) for the person’s sex and chronological age, compared with a well-nourished, genetically relevant population, in absence of specific causative disorders.
Molecular pathology Defects of SHOX–which controls fundamental aspects of growth and development, cause short stature—idiopathic—X-linked.
References http://www.uniprot.org/uniprot/O15266
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