Häusler, Martin G <br/><br/>
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability.  [electronic resource] 

 -  European journal of medical genetics  Apr 2020 
 - 103826 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2019.103826  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Axons--pathology<br/>Child<br/>Child, Preschool<br/>Female<br/>Hereditary Sensory and Motor Neuropathy--genetics<br/>Homozygote<br/>Humans<br/>Male<br/>Muscle Hypotonia--genetics<br/>Mutation<br/>Phenotype<br/>Protein Isoforms--genetics<br/>Spectrin--genetics