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Correspondence to Dr. Loydie A Jerome-Majewska, Department of Pediatrics and Human Genetics, McGill University Research Institute, Place Toulon, 4060 Ste Catherine West PT 420, Montreal, QC H3Z 2Z3, Canada; loydie.majewska@mcgill.ca
DMM-M and SF contributed equally to this work.
For a complete list of author contributions, please see the full work.
We would like to acknowledge Patrick McMahon MD for his help in assessing and documenting the dermatologic findings in patients 1 and 2; Elizabeth Bratton for assistance with clinical data collection in the ‘22q and You’ Center; Piotr Jurgielewicz for assistance with gathering reference materials; Colleen Franconi for technical assistance in the laboratory of Dr Beverly S Emanuel, all at the Children's Hospital of Philadelphia.
We also wish to acknowledge the contribution of the high-throughput sequencing platform of the McGill University and Genome Québec Innovation Centre (Montréal, Canada) and Dr Jacek Majewski for his help in analysing the exome data.
This work was supported by a grant from the Canadian Institutes of Health Research (#MOP-102666) to LJM, and NIH support (HL84410, MH87636 and HD070454) to BSE, DMM-M and EHZ.
BAN is supported by KOLUMB fellowship from the Foundation for Polish Science.
The Charles EH Upham Chair to BSE provided funds for this research at the Children's Hospital of Philadelphia.
JV was supported by the Jerome Lejeune Foundation and LJM is a member of the Research Institute of the McGill University Health Centre, which is supported in part by the FRSQ.
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