Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.
Elbracht, Miriam
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. [electronic resource] - Molecular genetics & genomic medicine 11 2018 - 1255-1260 p. digital
Publication Type: Case Reports; Journal Article
2324-9269
10.1002/mgg3.490 doi
Child
Contracture--genetics
Female
Heterozygote
Humans
Hypokinesia--genetics
Mutation, Missense
Nedd4 Ubiquitin Protein Ligases--genetics
Periventricular Nodular Heterotopia--genetics
Phenotype
Syndrome
Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures. [electronic resource] - Molecular genetics & genomic medicine 11 2018 - 1255-1260 p. digital
Publication Type: Case Reports; Journal Article
2324-9269
10.1002/mgg3.490 doi
Child
Contracture--genetics
Female
Heterozygote
Humans
Hypokinesia--genetics
Mutation, Missense
Nedd4 Ubiquitin Protein Ligases--genetics
Periventricular Nodular Heterotopia--genetics
Phenotype
Syndrome