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

BACKGROUND: Polydactyly is a common genetic limb deformity characterized by the presence of extra fingers or toes. This anomaly may occur in isolation (nonsyndromic) or as part of a syndrome. The disease is broadly divided into preaxial polydactyly (PPD; duplication of thumb), mesoaxial polydactyly...

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Detalles Bibliográficos
Autores principales: Umair, Muhammad, Wasif, Naveed, Albalawi, Alia M., Ramzan, Khushnooda, Alfadhel, Majid, Ahmad, Wasim, Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625144/
https://www.ncbi.nlm.nih.gov/pubmed/31115189
http://dx.doi.org/10.1002/mgg3.627

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625144/
https://www.ncbi.nlm.nih.gov/pubmed/31115189
http://dx.doi.org/10.1002/mgg3.627

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