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

Abstract 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....

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Autores principales: Liutao Zhang, Miao Yu, Kai Sun, Zhuangzhuang Fan, Haochen Liu, Hailan Feng, Yang Liu, Dong Han
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/0f5f01fad42d4d5981731dcaf8e1df2b
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