Article Text

other Versions

PDF
Letter to the Editor
Radiological signs of Léri-Weill dyschondrosteosis present in the A170P carrier
  1. Karen E Heath
  1. Correspondence to Dr Karen E Heath, Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, P° Castellana 261, 28046 Madrid, Spain; kheath.hulp{at}salud.madrid.org

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 …

View Full Text

Request permissions

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.