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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACT...

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACT...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6034999

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

About this item

Full title

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2018-10, Vol.20 (10), p.1206-1215

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose
Smooth muscle dysfunction syndrome (SMDS) due to heterozygous
ACTA2
arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle–dependent organs. We sought to define the clinical history of SMDS to dev...

Alternative Titles

Full title

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6034999

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6034999

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/gim.2017.245

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