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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Vydáno v:J Med Genet
Hlavní autoři: Jani, Priyam, Nguyen, Quynh C, Almpani, Konstantinia, Keyvanfar, Cyrus, Mishra, Rashmi, Liberton, Denise, Orzechowski, Pamela, Frischmeyer-Guerrerio, Pamela A, Duverger, Olivier, Lee, Janice S
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2020
Témata:
Developmental Defects
On-line přístup: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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