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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Detaylı Bibliyografya
Yayımlandı:J Med Genet
Asıl Yazarlar: Jani, Priyam, Nguyen, Quynh C, Almpani, Konstantinia, Keyvanfar, Cyrus, Mishra, Rashmi, Liberton, Denise, Orzechowski, Pamela, Frischmeyer-Guerrerio, Pamela A, Duverger, Olivier, Lee, Janice S
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Publishing Group 2020
Konular:
Developmental Defects
Online Erişim: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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