Article

New Inside Into Clinical Heterogeneity and Inheritance Diversity of FBLN5-Related Cutis Laxa

2020-10-21

Abstract excerpt

<title>Abstract</title> <p>BackgroundFBLN5-related cutis laxa (CL) is a rare disorder that involves elastic ﬁber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, inguinal hernias, hollow viscus diverticula and pyloric stenosis. This type of CL follows mostly autosomal recessive (AR) and less commonly autosomal dominant patterns...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a60f9452-bc14-59b9-a972-fda9ab42be18
DOI: 10.21203/rs.3.rs-93962/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

New Inside Into Clinical Heterogeneity and Inheritance Diversity of FBLN5-Related Cutis LaxaDOI 10.21203/rs.3.rs-93962/v1Read

ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.Semantic proximity Read

Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with Cutis LaxaSemantic proximity Read

Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology.Semantic proximity Read

Cutis laxa: a review.Semantic proximity Read

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.Semantic proximity Read

A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.Semantic proximity Read

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.Semantic proximity Read

Autosomal recessive cutis laxa syndrome revisited.Semantic proximity Read

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.Semantic proximity Read

Cutis Laxa.Semantic proximity Read

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.Semantic proximity Read

[Clinical and genetic analysis of a patient with cutis laxa].Semantic proximity Read