Watts, Laura M.
Bertoli, Marta
Attie-Bitach, Tania http://orcid.org/0000-0002-1155-3626
Roux, Natalie
Rausell, Antonio http://orcid.org/0000-0002-4832-6101
Paschal, Cate R. http://orcid.org/0000-0002-9400-5560
Zambonin, Jessica L.
Curry, Cynthia J.
Martin, Blanche
Tooze, Rebecca S.
Hawkes, Lara
Kini, Usha
Twigg, Stephen R. F. http://orcid.org/0000-0001-5024-049X
Wilkie, Andrew O. M. http://orcid.org/0000-0002-2972-5481
Funding for this research was provided by:
DH | National Institute for Health Research
RCUK | Medical Research Council
Doctoral Training Programme studentship funded jointly by the Radcliffe Department of Medicine, Exeter College (Oxford) Usher Cunningham Scholarship and the MRC
Article History
Received: 18 January 2024
Revised: 31 March 2024
Accepted: 25 April 2024
First Online: 17 May 2024
Competing interests
: The authors declare no competing interests.
: Ethical approval for research investigation of Family 6 was provided by London Riverside NHS Research Ethics Committee ref 09/H0706/20). Other families were recruited as a result of clinical investigations. All patients or their legal guardians gave informed consent for inclusion in this study, and separate written informed consent was obtained for the publication of all clinical images.