Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures
Article
Elbracht, Miriam, Kraft, Florian, Begemann, Matthias, Holschbach, Petra, Mull, Michael, Kabat, Ildiko M., Müller, Britta, Häusler, Martin, Kurth, Ingo
and Hehr, Ute
(2018)
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Molecular Genetics & Genomic Medicine 6 (6), pp. 1255-1260.
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| Item type | Article | ||||
| Journal or Publication Title | Molecular Genetics & Genomic Medicine | ||||
| Publisher | Wiley | ||||
| Place of Publication | HOBOKEN | ||||
| Volume | 6 | ||||
| Number of Issue or Book Chapter | 6 | ||||
| Page Range | pp. 1255-1260 | ||||
| Date | 2018 | ||||
| Date of publication | 28 Jul 2021 17:00 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
| ||||
| Keywords | HECT DOMAIN; arthrogryposis; fetal hypokinesia; nanopore sequencing; NEDD4L; periventricular nodular heterotopias | ||||
| 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 | 46615 |
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