Genomic Observations of a Rare/Pathogenic <i>SMAD3</i> Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

Genomic Observations of a Rare/Pathogenic <i>SMAD3</i> Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

<i>Background and objectives:</i> Loeys&#8211;Dietz syndrome 3, also known as aneurysms-&#8211;osteoarthritis syndrome, is an autosomal dominant genetic connective tissue disease caused by pathogenic variants in <i>SMAD3</i>, a transcription factor involved in TGF-&am...

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Bibliographic Details
Main Authors: John E. Richter, Ayesha Samreen, Charitha Vadlamudi, Haytham Helmi, Ahmed N. Mohammad, Klaas Wierenga, Stephanie Hines, Paldeep S. Atwal, Thomas R. Caulfield
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:Medicina
Subjects:
SMA- and MAD-related protein 3 (SMAD3)
Loeys–Dietz syndrome 3 (LDS3)
protein informatics
molecular genomics
pathogenicity
case report
Online Access:https://www.mdpi.com/1010-660X/55/5/137

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https://www.mdpi.com/1010-660X/55/5/137

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