short stature—idiopathic—X-linked

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short stature—idiopathic—X-linked2016-11-28T03:58:02+00:00

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

http://www.omim.org/entry/300582  

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