Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

Authors

Gabriela Jones, Nottingham University Hospitals NHS Trust
Katie Johnson, Nottingham University Hospitals NHS Trust
Jacqueline Eason, Nottingham University Hospitals NHS Trust
Mark Hamilton, Nottingham University Hospitals NHS Trust
Deborah Osio, Birmingham Women's and Children's NHS Foundation Trust
Farah Kanani, Birmingham Women's and Children's NHS Foundation Trust
Julia Baptista, Peninsula Medical School
Mohnish Suri, Nottingham University Hospitals NHS Trust

ORCID

• Julia Baptista: 0000-0003-0915-5028

DOI Link

10.1016/j.ejmg.2022.104572

Publication Date

2022-01-01

Publication Title

European Journal of Medical Genetics

Volume

65

Issue

10

ISSN

1769-7212

Acceptance Date

2022-07-20

Embargo Period

2023-08-10

Recommended Citation

Jones, G., Johnson, K., Eason, J., Hamilton, M., Osio, D., Kanani, F., Baptista, J., & Suri, M. (2022) 'Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome', European Journal of Medical Genetics, 65(10). Available at: 10.1016/j.ejmg.2022.104572