Radiological signs of Leri-Weill dyschondrosteosis present in the A170P carrier

摘要

After reading the article entitled 'A170P mutation in SHOX gene in a patient not presenting with Madelung deformity' in the Journal of Clinical Pathology, I would like to comment on a few important statements and points raised by Alvarez-Mora et al, who incidentally identified the SHOX A170P mutation in a 30-year-old woman who belongs to a Spanish gypsy family while looking for the genetic cause of her moderate intellectual disability.