P340: Jaberi-Elahi syndrome caused by maternal UPD 6 resulting in homozygous variants from a heterozygous parent von Perry, Gabriella, Merberg, Jessica, Gomez, Luis, Shah, Ankit, Hauser, Natalie

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In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees von Pemov, Alexander, Pathak, Anand, Jones, Samantha J., Dewan, Ramita, Merberg, Jessica, Karra, Sirisha, Kim, Jung, Arons, Evgeny, Ravichandran, Sarangan, Luke, Brian T., Suman, Shalabh, Yeager, Meredith, Dyer, Martin J. S., Lynch, Henry T., Greene, Mark H., Caporaso, Neil E., Kreitman, Robert J., Goldin, Lynn R., Spinelli, John J., Brooks-Wilson, Angela, McMaster, Mary L., Stewart, Douglas R.

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Novel variant in TGM6 gene in patient with spinocerebellar ataxia 35 exhibiting a rapid onset and progression of movement disorder von Pascal, Julia, Merberg, Jessica, Hauser, Natalie

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eP136 - Novel variant in TGM6 gene in patient with spinocerebellar ataxia 35 exhibiting a rapid onset and progression of movement disorder von Pascal, Julia, Merberg, Jessica, Hauser, Natalie

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