Holling, Tess
Nampoothiri, Sheela http://orcid.org/0000-0002-9575-0722
Tarhan, Bedirhan
Schneeberger, Pauline E.
Vinayan, Kollencheri Puthenveettil
Yesodharan, Dhanya
Roy, Arun Grace
Radhakrishnan, Periyasamy
Alawi, Malik http://orcid.org/0000-0002-5993-7709
Rhodes, Lindsay
Girisha, Katta Mohan http://orcid.org/0000-0002-0139-8239
Kang, Peter B. http://orcid.org/0000-0002-4270-7325
Kutsche, Kerstin http://orcid.org/0000-0001-8494-8963
Funding for this research was provided by:
Deutsche Forschungsgemeinschaft (KO 4576/1-2)
Article History
Received: 14 May 2021
Revised: 9 December 2021
Accepted: 17 December 2021
First Online: 11 January 2022
Competing interests
: LR is an employee of GeneDx, Inc and PR is an employee and KMG is a director of Suma Genomics Pvt. Ltd. All other authors declare no competing interests.
: The parents of three siblings (patients 1–1, 1–2, and 1–3 – family 1) and patient 3–1 (family 3) provided informed consent for their participation in the study, clinical data and specimen collection, genetic analysis, and publication of relevant findings. Informed consent was obtained for patient 2–1 and her parents (family 2) under a protocol approved by the Institutional Review Board of the University of Florida.