Kameli, Reyhaneh <br/><br/>
Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.  [electronic resource] 

 -  European journal of medical genetics  Jan 2020 
 - 103629 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2019.02.002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alopecia--complications<br/>Carrier Proteins--genetics<br/>Child, Preschool<br/>Connective Tissue Diseases--complications<br/>Cutis Laxa--complications<br/>Face--diagnostic imaging<br/>Female<br/>Frameshift Mutation--genetics<br/>Genetic Predisposition to Disease<br/>Guanine Nucleotide Exchange Factors--genetics<br/>Homozygote<br/>Humans<br/>Leukoencephalopathies--complications<br/>Magnetic Resonance Imaging<br/>Male<br/>Megalencephaly--complications<br/>Pedigree<br/>Scoliosis--complications<br/>White Matter--abnormalities