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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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| Publié dans: | J Med Genet |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
2020
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| Sujets: | |
| Accès en ligne: | 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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