MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease

2021 | journal article; research paper. A publication with affiliation to the University of Göttingen.

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​MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease​
Khuller, K.; Yigit, G.; Martínez Grijalva, C.; Altmüller, J.; Thiele, H.; Nürnberg, P. & Elcioglu, N. H. et al.​ (2021) 
European Journal of Medical Genetics64(10) art. S1769721221001762​.​ DOI: https://doi.org/10.1016/j.ejmg.2021.104310 

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Authors
Khuller, Katharina; Yigit, Gökhan; Martínez Grijalva, Carolina; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Elcioglu, Nursel H.; Yeter, Burcu; Hehr, Ute; Stein, Anja; Kuechler, Alma
Issue Date
2021
Journal
European Journal of Medical Genetics 
Project
EXC 2067: Multiscale Bioimaging 
Working Group
RG Wollnik 
ISSN
1769-7212
Language
English

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