Exome sequencing revealed a novel loss ‐of‐function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly

ConclusionTo the best of our knowledge, the present study reports on the first familial case of nonsyndromic postaxial polydactyly due to theGLI3 variant in Pakistani population. Our study also demonstrated the important role of GLI3 in causing nonsyndromic postaxial polydactyly.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.627?af=R

Source: Molecular Genetics & Genomic Medicine - May 20, 2019 Category: Genetics & Stem Cells Authors: Muhammad Umair, Naveed Wasif, Alia M. Albalawi, Khushnooda Ramzan, Majid Alfadhel, Wasim Ahmad, Sulman Basit Tags: ORIGINAL ARTICLE Source Type: research