Premium
Issue Information
Publication year - 2020
Publication title -
congenital anomalies
Language(s) - English
Resource type - Reports
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12343
Subject(s) - polydactyly , phenotype , biology , disease , genetics , medicine , pathology , gene
A mutation in GLI1 causes polydactyly segregating in autosomal dominant manner. The disease phenotypes included broadened pinky to well‐developed extra digit on the ulnar and/or fibular side. Phenotypic variability was noted among affected individuals. In addition, variability in severity of the disease was observed in upper and lower limbs of the same affected individual. Further details can be seen in the Original Article by Yousaf et al. in this issue.