An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3

Author:

Scheuerle Angela E.123ORCID,Sweed Nathan T.24,Timmons Charles F.24,Smith Erica D.5,Alcaraz Wendy A.5,Shinde Deepali N.5

Affiliation:

1. Department of Pediatrics; University of Texas Southwestern Medical Center; Dallas Texas, USA

2. Department of Pathology; University of Texas Southwestern Medical Center; Dallas Texas, USA

3. Department of Pediatrics; Parkland Health and Hospital System; Dallas Texas, USA

4. Department of Pathology; Parkland Health and Hospital System; Dallas Texas, USA

5. Ambry Genetics; Aliso Viejo; California USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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1. Cellular and molecular basis of proximal small intestine disorders;Nature Reviews Gastroenterology & Hepatology;2024-08-08

2. ADAMTS2 and ADAMTS14 can substitute for ADAMTS3 in adults for pro-VEGFC activation and lymphatic homeostasis;JCI Insight;2022-04-22

3. Fetal Hydrops;Keeling's Fetal and Neonatal Pathology;2022

4. Lymphovascular Genomics and Proteomics, Clinical Syndromes, and Cancer Metastasis;Cancer Metastasis Through the Lymphovascular System;2022

5. Primary lymphoedema;Nature Reviews Disease Primers;2021-10-21

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