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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Detalles Bibliográficos
Autores principales: Potuijt, Jacob W P, Hoogeboom, Jeannette, de Graaff, Esther, van Nieuwenhoven, Christianne A, Galjaard, Robert Jan H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Phenotypes
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525795/
https://www.ncbi.nlm.nih.gov/pubmed/32179704
http://dx.doi.org/10.1136/jmedgenet-2019-106685

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525795/
https://www.ncbi.nlm.nih.gov/pubmed/32179704
http://dx.doi.org/10.1136/jmedgenet-2019-106685

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