Althebaiti, Hebah O. https://orcid.org/0000-0002-1512-2241
Cooksedge, James
Baker, Martin J.
Smith, Madeleine
Edwards-Scott, Verity https://orcid.org/0009-0007-2708-4442
Pessoa, André Luiz Santos
Margot, Henri https://orcid.org/0000-0003-1353-0716
Metcalfe, Kay A.
Fradin, Mélanie https://orcid.org/0000-0002-2535-2198
Mostow, Hailey
Alders, Marielle https://orcid.org/0000-0002-7386-4868
Lakeman, Phillis https://orcid.org/0000-0001-6385-1804
Malliri, Angeliki
Banka, Siddharth https://orcid.org/0000-0002-8527-2210
Millard, Tom H. https://orcid.org/0000-0002-8869-4654
Funding for this research was provided by:
University of Jeddah
NIHR Manchester BRC
Article History
Received: 16 September 2025
Revised: 30 March 2026
Accepted: 7 April 2026
First Online: 12 May 2026
Competing interests
: The authors declare no competing interests.
: The research presented here complies with all relevant ethical regulations and was performed under the approvals given by the South Manchester National Health Service (NHS) Research Ethics Committee (REC; 11/H1003/3/AM02). Written informed consent was obtained for publication of clinical details of individuals with RAC1 variants.