A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex

BACKGROUND: Polydactyly is a highly common congenital limb defect. Extra digits may appear as an isolated anomaly or as a part of a syndrome. Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly. Genotype-phenotype correlation...

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Detalles Bibliográficos
Autores principales: Volodarsky, Michael, Langer, Yshaia, Birk, Ohad S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256830/
https://www.ncbi.nlm.nih.gov/pubmed/25267529
http://dx.doi.org/10.1186/s12881-014-0110-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256830/
https://www.ncbi.nlm.nih.gov/pubmed/25267529
http://dx.doi.org/10.1186/s12881-014-0110-9

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