A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

BACKGROUND: Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies. CASE PRESENTATION: The patient was a 2-year-old boy who underwent surgery in our ho...

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Detalles Bibliográficos
Autores principales: Zou, Qianqian, Tian, Zhigang, Zheng, Jie, Zhi, Xiufang, Du, Xiaojie, Shu, Jianbo, Cai, Chunquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842497/
https://www.ncbi.nlm.nih.gov/pubmed/31706290
http://dx.doi.org/10.1186/s12881-019-0889-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842497/
https://www.ncbi.nlm.nih.gov/pubmed/31706290
http://dx.doi.org/10.1186/s12881-019-0889-5

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