Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Multiple facial milia in patients with Loeys-Dietz syndrome.

Archives of dermatology - 1 Feb 2011

Lloyd Brendan M, Braverman Alan C, Anadkat Milan J

Abstract excerpt

BACKGROUND: Loeys-Dietz syndrome (LDS) results from mutations in the TGFBR1 or TGFBR2 genes and is known to cause aggressive cardiovascular disease, including aortic aneurysms and dissections at an early age. Currently, craniofacial, skeletal, and cardiovascular findings play an important role in early recognition of the disease. While many patients do have recognizable cutaneous features of LDS, little...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to TGFBR1 gene
Share to Loeys-Dietz Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Protein Serine-Threonine Kinases

Share to Receptor, Transforming Growth Factor-beta Type II

Share to Receptors, Transforming Growth Factor beta

Share to Young Adult

Source

Identifiers

PMID: 20956634
DOI: 10.1001/archdermatol.2010.284

Genes

TGFBR2
TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Multiple facial milia in patients with Loeys-Dietz syndrome.PMID 20956634Read ↗

Pathophysiology and Management of Cardiovascular Manifestations in Marfan and Loeys–Dietz SyndromesSemantic proximity Read ↗

Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.Semantic proximity Read ↗

Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.Semantic proximity Read ↗

Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings.Semantic proximity Read ↗

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.Semantic proximity Read ↗

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature DataSemantic proximity Read ↗

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.Semantic proximity Read ↗

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability.Semantic proximity Read ↗

Ectopia lentis in Loeys-Dietz syndrome type 4.Semantic proximity Read ↗

A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm.Semantic proximity Read ↗

Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms.Semantic proximity Read ↗

Systemic connective tissue features in women with fibromuscular dysplasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.