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Khuller, Katharina, Yigit, Goekhan, Grijalva, Carolina Martinez, Altmueller, Janine, Thiele, Holger, Nurnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Koeninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd 
ORCID: 0000-0003-2589-0364 and Kuechler, Alma
(2021).
MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease.
Eur. J. Med. Genet., 64 (10).
AMSTERDAM:
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ISSN 1878-0849