TY  - GEN
AU  - Elbracht,Miriam
AU  - Kraft,Florian
AU  - Begemann,Matthias
AU  - Holschbach,Petra
AU  - Mull,Michael
AU  - Kabat,Ildiko M
AU  - Müller,Britta
AU  - Häusler,Martin
AU  - Kurth,Ingo
AU  - Hehr,Ute
TI  - Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures
SN  - 2324-9269
PY  - 2019///0123
KW  - Child
KW  - Contracture
KW  - genetics
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Hypokinesia
KW  - Mutation, Missense
KW  - Nedd4 Ubiquitin Protein Ligases
KW  - Periventricular Nodular Heterotopia
KW  - Phenotype
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/mgg3.490
ER  -