Fig. 1: Pedigrees of patients carrying the 5′UTR variants.
From: Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
The proband of each family is indicated by an arrow. The variant carried by the proband is reported below each pedigree. The genotypes of all the family members that were available are reported (+ = wild-type allele; − = variant allele). The filled symbols indicate individuals with clinical feature suggestive of SHOX haploinsufficiency. The height SDS and phenotypes are reported under each symbols. LWD Leri-Weill dyschondrosteosis.
