Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes

BACKGROUND: The of zone of polarizing activity regulatory sequence (ZRS) is a regulatory element residing in intron 5 of LMBR1 and regulates Sonic Hedgehog expression in the limb bud. Variants in the ZRS are generally fully penetrant and can cause triphalangeal thumb (TPT) and polydactyly in affecte...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Potuijt, Jacob W P, Hoogeboom, Jeannette, de Graaff, Esther, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2020
Assuntos:
Phenotypes
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7525795/
https://ncbi.nlm.nih.gov/pubmed/32179704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106685
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