TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant-Reference-Cited by-同舟云学术

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TBX5 variants and cardiac phenotype: A systematic review of the literature and a novel variant

Published:2024-04 Issue: Volume:68 Page:104920
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Møller Nielsen Anne Kathrine^ORCID,Dehn Anna Maria,Hjortdal Vibeke,Larsen Lars Allan

Funder

Novo Nordisk Fonden

Publisher

Elsevier BV

Reference25 articles.

1. Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications;Al-Qattan;Gene,2015

2. A global reference for human genetic variation;Auton;Nature,2015

3. Holt Oram syndrome: a registry-based study in Europe;Barisic;Orphanet J. Rare Dis.,2014

4. Molecular genetics of holt–oram syndrome;Barnett,2014

5. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome;Basson;Nat. Genet.,1997

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