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Scott, R. H.
Siddiq, A.
Sieghart, A.
Smith, S. C.
Sosinsky, A.
Stuckey, A.
Tanguy, M.
Taylor Tavares, A. L.
Thomas, E. R. A.
Thompson, S. R.
Tucci, A.
Welland, M. J.
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Campbell, H
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Menon, A
,
Funding for this research was provided by:
Medical Research Council (MR/W000105/1)
Article History
Received: 24 April 2023
Accepted: 7 August 2023
First Online: 28 August 2023
Declarations
:
: The WGS data of the first index case were generated through the 100,000 genomes project. Ethical approval for the 100,000 genomes project was given by the Health Research Authority of the National Research Ethics Service Committee East of England (REC: 14/EE/1112; IRAS: 166046). All other genetic data were generated as part of routine clinical care and so ethical approval was not required; all genetic testing was carried out in accordance with relevant local guidelines and regulations. All adult patients and the parents of the paediatric patient provided informed consent to participate.
: Written informed consent for publication was obtained from all adult patients and from the parent of the paediatric patient.
: The authors declare that they have no competing interests.