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Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation

Background Loeys-Dietz syndrome (LDS), an autosomal dominant rare connective tissue disorder, has multisystemic manifestations, characterised by vascular tortuosity, aneurysms and craniofacial manifestations. Based on the associated gene mutations along the transforming growth factor-beta (TGF-β) pa...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Jani, Priyam, Nguyen, Quynh C, Almpani, Konstantinia, Keyvanfar, Cyrus, Mishra, Rashmi, Liberton, Denise, Orzechowski, Pamela, Frischmeyer-Guerrerio, Pamela A, Duverger, Olivier, Lee, Janice S
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7525783/
https://ncbi.nlm.nih.gov/pubmed/32152251
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106678
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