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Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

Triphalangeal thumbs (TPTs) are regularly caused by mutations in the ZRS in LMBR1. Phenotypic variability can be present in TPT‐families. However, recent observations suggest an increased occurrence of severe phenotypes in the Dutch TPT‐population. Therefore, the aim of this study is to investigate...

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Detalles Bibliográficos
Autores principales:	Baas, Martijn, Potuijt, Jacob W.P., Hovius, Steven E.R., Hoogeboom, A. Jeannette M., Galjaard, Robert‐Jan H., van Nieuwenhoven, Christianne A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5698718/ https://www.ncbi.nlm.nih.gov/pubmed/28889454 http://dx.doi.org/10.1002/ajmg.a.38398

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