@article{Sczakiel2023,
author = {Sczakiel, Henrike L. and Zhao, Max and Wollert-Wulf, Brigitte and Danyel, Magdalena and Ehmke, Nadja and Stoltenburg, Corinna and Damseh, Nadirah and Al-Ashhab, Motee and Balci, Tugce B. and Osmond, Matthew and Andrade, Andrea and Schallner, Jens and Porrmann, Joseph and McDonald, Kimberly and Liao, Mingjuan and Oppermann, Henry and Platzer, Konrad and Dierksen, Nadine and Mojarrad, Majid and Eslahi, Atieh and Bakaeean, Behnaz and Calame, Daniel G. and Lupski, James R. and Firoozfar, Zahra and Seyedhassani, Seyed Mohammad and Mohammadi, Seyed Ahmad and Anwaar, Najwa and Rahman, Fatima and Seelow, Dominik and Janz, Martin and Horn, Denise and Maroofian, Reza and Boschann, Felix},
year = {2023},
language = {eng},
copyright = {https://creativecommons.org/licenses/by/4.0/},
title = {Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals},
volume = {31},
issn = {1018-4813},
pages = {905 - 917},
url = "http://dx.doi.org/10.17169/refubium-49548",
}