Statistics from Altmetric.com
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 Álvarez-Mora et al,1 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. In their article, they state that the reported case is the first A170P carrier who did not present the Madelung deformity or any bone dysplasia. The characteristic radiological signs of Leri-Weill dyschondrosteosis (LWD) …
Competing interests None.
Provenance and peer review Not commissioned; internally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.