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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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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Baas, Martijn, Potuijt, Jacob W.P., Hovius, Steven E.R., Hoogeboom, A. Jeannette M., Galjaard, Robert‐Jan H., van Nieuwenhoven, Christianne A.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5698718/
https://ncbi.nlm.nih.gov/pubmed/28889454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38398
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