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

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

Zhonghua nei ke za zhi - 1 May 2022

Shan C, Wei Z, Zhang Z L

Abstract excerpt

Objective: Loeys-Dietz syndrome is a rare type of hereditary connective tissue disease. This study was aimed to analyze the clinical characteristics and gene mutations in a family of Loeys-Dietz syndrome with skeletal deformity. Methods: Clinical data of the proband and family members were collected and biochemical measurements and radiological examinations were conducted. Genomic DNA was extracted from...

Read the complete abstract on PubMed

Topics

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

Share to Loeys-Dietz Syndrome
Share to Mutation
Share to Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptors, Transforming Growth Factor beta

Source

Identifiers

PMID: 35488607
DOI: 10.3760/cma.j.cn112138-20210908-00624

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[A pedigree study of Loeys-Dietz syndrome type 4 with skeletal deformity related to a novel TGFβ2 mutation].PMID 35488607Read ↗

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

The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants.Semantic proximity Read ↗

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

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

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

[Loeys-Dietz syndrome (TGFβR2 mutation) in a 4-year-old child with thoracic aortic aneurysm].Semantic proximity Read ↗

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

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

Genetic Problems, Diagnosis, and Cardiovascular Manifestations of Loeys-Dietz Syndrome.Semantic proximity Read ↗

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.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 ↗

Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the TGFB1 Gene.Semantic proximity Read ↗

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