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

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.

Clinical genetics - 1 Mar 2008

Drera B, Tadini G, Barlati S, Colombi M

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Aneurysm
Share to Collagen Type III
Share to Ehlers-Danlos Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Protein Serine-Threonine Kinases

Share to Receptor, Transforming Growth Factor-beta Type I

Share to Receptors, Transforming Growth Factor beta

Share to Syndrome

Source

Identifiers

PMID: 18070134
DOI: 10.1111/j.1399-0004.2007.00942.x

Genes

TGFBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.PMID 18070134Read ↗

A novel mutation of TGFBR2 causing Loeys-Dietz syndrome complicated with pregnancy-related fatal cervical arterial dissections.Semantic proximity Read ↗

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

Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicitySemantic proximity Read ↗

Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.Semantic proximity Read ↗

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.Semantic proximity Read ↗

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome.Semantic proximity Read ↗

Valve-sparing aortic root replacement in Loeys-Dietz syndrome and a novel mutation in TGFBR2.Semantic proximity Read ↗

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

[A pedigree study of Loeys-Dietz syndrome type 4 with skeletal deformity related to a novel TGFβ2 mutation].Semantic proximity Read ↗

[Clinical and genetic analysis of a patient with Loeys-Dietz syndrome due to variant of TGFBR2 gene].Semantic proximity Read ↗

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.Semantic proximity Read ↗

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

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