Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.83
Abstract: Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present… read more here.
Keywords: post axial; axial polydactyly; iqce gene; gene ... See more keywords
Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Genetics"
DOI: 10.1111/cge.13547
Abstract: Pre‐axial polydactyly (PPD) is characterized by well‐developed non‐functional 1st digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study, two families of Pakistani origin, demonstrating unilateral… read more here.
Keywords: exome sequencing; stkld1; revealed nonsense; axial polydactyly ... See more keywords
On-Top Plasty in Post-Axial Polydactyly: A Case Report and Recommendation to Modify the Classifications.
Sign Up to like & getrecommendations! Published in 2022 at "The journal of hand surgery Asian-Pacific volume"
DOI: 10.1142/s2424835522720213
Abstract: Post-axial polydactyly (PAP) is almost always treated by ablation of the sixth ray since the ulnar duplicate is universally inadequate and the radial one is normal. We report a patient with bilateral PAP with skeletal… read more here.
Keywords: report; top plasty; post axial; axial polydactyly ... See more keywords