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: | , , , , , , , |
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Formato: | article |
Lenguaje: | EN |
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Nature Portfolio
2021
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Acceso en línea: | https://doaj.org/article/0f5f01fad42d4d5981731dcaf8e1df2b |
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