Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans

Low-density lipoprotein receptor-related protein 6 (LRP6) is a pathogenic gene of selective tooth agenesis-7 (OMIM#616724). Although the malformation of the digits and fore- and hindlimbs has been reported in Lrp6-deficient mice, it has been rarely discovered in humans with LRP6 mutations. Here, we...

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Detalles Bibliográficos
Autores principales: Zhang, Liutao, Yu, Miao, Sun, Kai, Fan, Zhuangzhuang, Liu, Haochen, Feng, Hailan, Liu, Yang, Han, Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8581002/
https://www.ncbi.nlm.nih.gov/pubmed/34759310
http://dx.doi.org/10.1038/s41525-021-00262-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8581002/
https://www.ncbi.nlm.nih.gov/pubmed/34759310
http://dx.doi.org/10.1038/s41525-021-00262-0

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