Clinical and Radiological Characterization of Novel FIG4‐related Combined System Disease with Neuropathy

Georgia C. Wright, Richard Brown, Hannah Grayton,John H. Livingston, Soo-Mi Park,Alasdair P. J. Parker,Anjla Patel,Ingrid Simonic, Adam G. Thomas,Gayatri Vadlamani,Rita Horvath,Pooja D. Harijan

Clinical genetics（2020）

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关键词
FIG4,hereditary sensory and motor neuropathy,intellectual disability,olivary nucleus
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