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Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3

Published Online: 2024-01-11

Authors

Nagaraj, Chinmayee B.

Brightman, Diana S.

Rea, Hannah

Wakefield, Emily

Harkavy, Nina V. G.

Dyer, Lisa

Zhang, Wenying
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Text and Data Mining valid from 2024-01-11

Version of Record valid from 2024-01-11
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Article History

Received: 16 February 2023

Accepted: 26 December 2023

First Online: 11 January 2024

Declarations

:

: According to Cincinnati Children’s Institutional Review Board, an ethics committee approval is not required for review and publication of a clinical case report. Informed consent for each participant was obtained from the parents for participation in and publication of this clinical case report. The clinical tests were performed in College of American Pathologists (CAP) accredited and Clinical Laboratory Improvement Amendments of 1988 (CLIA) certified diagnostic genetics laboratories. The review and publication efforts were carried out in accordance with relevant guidelines and regulations, including the Declaration of Helsinki.

: Written informed consent was obtained for each participant from the parents for publication of identifying information/images in an online open-access publication.

: The authors declare no competing interests.

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