Autor: Hubert Piwar
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Langer mesomelic dysplasia as a rare manifestation of SHOX deficiency: a narrative review
Langer mesomelic dysplasia is an exceptionally rare skeletal dysplasia caused by complete or functionally complete deficiency of the SHOX (short stature homeobox) gene located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Clinicall…