| Original language | English |
|---|---|
| Pages (from-to) | 708-712 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 188 |
| Issue number | 2 |
| DOIs | |
| State | Published - Feb 2022 |
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In: American Journal of Medical Genetics, Part A, Vol. 188, No. 2, 02.2022, p. 708-712.
Research output: Contribution to journal › Letter › peer-review
TY - JOUR
T1 - Distinguishing severe phenotypes associated with pathogenic variants in POLR3A
AU - Perrier, Stefanie
AU - Gauquelin, Laurence
AU - Wambach, Jennifer A.
AU - Bernard, Geneviève
N1 - Funding Information: The authors would like to thank authors P Majethia and KM Girisha for their informative report on this patient and contribution to the literature. The authors' work on POLR3‐related leukodystrophy is supported by project grants from the Canadian Institutes of Health Research (377869, 426534) as well as research grants from the Montreal Children's Hospital/Leuco Action. Geneviève Bernard has received the Clinical Research Scholar Junior 1 Award from the Fonds de Recherche du Quebec—Santé (FRQS) (2012–2016), the New Investigator Salary Award from the Canadian Institutes of Health Research (2017–2022), and the Clinical Research Scholar Senior award from the FRQS (2022–2025). Stefanie Perrier is supported by the FRQS Doctoral Scholarship, the Fondation du Grand défi Pierre Lavoie Doctoral Scholarship, the McGill Faculty of Medicine F.S.B. Miller Fellowship, and the Research Institute of the McGill University Health Centre Desjardins Studentship in Child Health Research. Jennifer A. Wambach receives funding from the National Institutes of Health (R01‐HL149853) and the Children's Discovery Institute (Washington University School of Medicine/St. Louis Children's Hospital). Funding Information: The authors would like to thank authors P Majethia and KM Girisha for their informative report on this patient and contribution to the literature. The authors' work on POLR3-related leukodystrophy is supported by project grants from the Canadian Institutes of Health Research (377869, 426534) as well as research grants from the Montreal Children's Hospital/Leuco Action. Genevi?ve Bernard has received the Clinical Research Scholar Junior 1 Award from the Fonds de Recherche du Quebec?Sant? (FRQS) (2012?2016), the New Investigator Salary Award from the Canadian Institutes of Health Research (2017?2022), and the Clinical Research Scholar Senior award from the FRQS (2022?2025). Stefanie Perrier is supported by the FRQS Doctoral Scholarship, the Fondation du Grand d?fi Pierre Lavoie Doctoral Scholarship, the McGill Faculty of Medicine F.S.B. Miller Fellowship, and the Research Institute of the McGill University Health Centre Desjardins Studentship in Child Health Research. Jennifer A. Wambach receives funding from the National Institutes of Health (R01-HL149853) and the Children's Discovery Institute (Washington University School of Medicine/St. Louis Children's Hospital).
PY - 2022/2
Y1 - 2022/2
UR - http://www.scopus.com/inward/record.url?scp=85118950296&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.62553
DO - 10.1002/ajmg.a.62553
M3 - Letter
C2 - 34773388
AN - SCOPUS:85118950296
SN - 1552-4825
VL - 188
SP - 708
EP - 712
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -