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7 resultsUpdated October 20, 2026
1

Holt-Oram Syndrome (HOS)

Genetic Syndromes (2025)

Parham Ghafouri; Yasamin Maleki Gilvaei; Sepideh Razi

2

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

European Journal of Human Genetics 27(3) (2018)

Clémence Vanlerberghe; Anne-Sophie Jourdain; Jamal Ghoumid; Frédéric Frenois; Aurélie Mezel; Guy Vaksmann; Bruno Lenne; Bruno Delobel; Nicole Porchet; Valérie Cormier-Daire; Thomas Smol; Fabienne Escande; Sylvie Manouvrier-Hanu; Florence Petit

4

A term neonate with cyanosis with crying

Breathe 17(3) (2021)

Matthew C. Pertzborn; Markus S. Renno; Karen Lyons; Jordan Fett; Christopher W. Baird; Amit Agarwal

5

Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt–Oram syndrome

American Journal of Medical Genetics Part A 182(7) (2020)

Jenny Patterson; Caroline Coats; Ruth McGowan

6

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis

Congenital Anomalies 64(1) (2023)

Kaori Yamoto; Fumiko Kato; Masaya Yamoto; Koji Fukumoto; Kenji Shimizu; Hirotomo Saitsu; Tsutomu Ogata

7

Evolutionarily conserved Tbx5 – Wnt2/2b pathway orchestrates cardiopulmonary development

Proceedings of the National Academy of Sciences 115(45) (2018)

Jeffrey D. Steimle; Scott A. Rankin; Christopher E. Slagle; Jenna Bekeny; Ariel B. Rydeen; Sunny Sun-Kin Chan; Junghun Kweon; Xinan H. Yang; Kohta Ikegami; Rangarajan D. Nadadur; Megan Rowton; Andrew D. Hoffmann; Sonja Lazarevic; William Thomas; Erin A. T. Boyle Anderson; Marko E. Horb; Luis Luna-Zurita; Robert K. Ho; Michael Kyba; Bjarke Jensen; Aaron M. Zorn; Frank L. Conlon; Ivan P. Moskowitz