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

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journal:European Journal of Medical Genetics

Authors:Katharina Khuller; Gkhan Yigit; Carolina Martínez Grijalva; Janine Altmüller; Holger Thiele; Peter Nürnberg; Nursel H. Elcioglu; Burcu Yeter; Ute Hehr; Anja Stein; Adela Della Marina; Angela Kninger; Christel Depienne; Frank J. Kaiser; Bernd Wollnik; Alma Kuechler

Published date:2021-10-

DOI:10.1016/j.ejmg.2021.104310

PDF link:https://www.sciencedirect.com/sc ... 769721221001762/pdf

Article link:https://doi.org/10.1016/j.ejmg.2021.104310

Article Source:Elsevier BV


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