Elbracht, Miriam <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>2324-9269 
<br/><br/><label>Standard No.: </label>10.1002/mgg3.490  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Contracture--genetics<br/>Female<br/>Heterozygote<br/>Humans<br/>Hypokinesia--genetics<br/>Mutation, Missense<br/>Nedd4 Ubiquitin Protein Ligases--genetics<br/>Periventricular Nodular Heterotopia--genetics<br/>Phenotype<br/>Syndrome