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MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
Khuller, Katharina, Yigit, Gökhan, Martínez Grijalva, Carolina, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Elcioglu, Nursel H., Yeter, Burcu, Hehr, Ute, Stein, Anja, Della Marina, Adela, Köninger, Angela, Depienne, Christel, Kaiser, Frank J., Wollnik, Bernd and Kuechler, Alma (2021) MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease. European Journal of Medical Genetics 64 (10), p. 104310.Date of publication of this fulltext: 29 Feb 2024 12:26
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| Item type | Article | ||||
| Journal or Publication Title | European Journal of Medical Genetics | ||||
| Publisher: | Elsevier | ||||
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| Place of Publication: | AMSTERDAM | ||||
| Volume: | 64 | ||||
| Number of Issue or Book Chapter: | 10 | ||||
| Page Range: | p. 104310 | ||||
| Date | 2021 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
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| Keywords | MAJOR FACILITATOR SUPERFAMILY; MFSD2A; TRANSPORTER; BRAIN; SUPPRESSION; RECEPTOR; Microcephaly; Development delay; MFSD2A; Blood-brain barrier | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 56225 |
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