PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
Journal article published in 2006 by
S. Benito-Sanz,
D. G. del Blanco,
M. Aza-Carmona,
L. F. Magano,
P. Lapunzina,
J. Argente,
A. Campos-Barros 
,
K. E. Heath
,
K. E. Heath
