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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Med Genet
Autori principali: Jani, Priyam, Nguyen, Quynh C, Almpani, Konstantinia, Keyvanfar, Cyrus, Mishra, Rashmi, Liberton, Denise, Orzechowski, Pamela, Frischmeyer-Guerrerio, Pamela A, Duverger, Olivier, Lee, Janice S
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2020
Soggetti:
Developmental Defects
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi