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Article

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

Journal of medical genetics - 1 Oct 2020

Jani Priyam, Nguyen Quynh C, Almpani Konstantinia, Keyvanfar Cyrus, Mishra Rashmi, Liberton Denise, Orzechowski Pamela, Frischmeyer-Guerrerio Pamela A, Duverger Olivier, Lee Janice S

Abstract excerpt

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) pathway, LDS is presently classified into six subtypes. Methods We present the oro-dental features of a cohort of 40...

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Identifiers

PMID: 32152251
DOI: 10.1136/jmedgenet-2019-106678
PMCID: PMC7525783

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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