Forde, Claire http://orcid.org/0000-0001-8035-4471
Burkitt-Wright, Emma
Turnpenny, Peter D.
Haan, Eric
Ealing, John
Mansour, Sahar http://orcid.org/0000-0001-6629-4118
Holder, Muriel
Lahiri, Nayana http://orcid.org/0000-0002-6260-7700
Dixit, Abhijit
Procter, Annie
Pacot, Laurence
Vidaud, Dominique
Capri, Yline
Gerard, Marion
Dollfus, Hélène
Schaefer, Elise
Quelin, Chloé
Sigaudy, Sabine
Busa, Tiffany
Vera, Gabriella http://orcid.org/0000-0001-8352-5563
Damaj, Lena
Messiaen, Ludwine
Stevenson, David A.
Davies, Peter
Palmer-Smith, Sheila
Callaway, Alison
Wolkenstein, Pierre
Pasmant, Eric
Upadhyaya, Meena http://orcid.org/0000-0002-4881-0235
Funding for this research was provided by:
Ian Owen Funds
Article History
Received: 9 May 2021
Revised: 6 October 2021
Accepted: 22 November 2021
First Online: 13 December 2021
Competing interests
: The authors declare no competing interests.
: Clinical and molecular information was collected from clinical records for research or service evaluation studies completed by the participating centres. Affected individuals were diagnosed by clinical examination and routine clinical investigations. All patients gave informed consent for genetic testing and to be included in research publications. Ethical committee approval was not sought for this work specifically, on the grounds that all participants are anonymised and informed consent was sought from participants at the time of original data collection. Additional cases incorporated in this analysis were derived from published cohorts. The Declaration of Helsinki was followed throughout.