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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Detalles Bibliográficos
Publicado en: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: BMJ Publishing Group 2020
Assuntos:
Developmental Defects
Acceso en liña: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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