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P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder by Kim Keppler-Noreuil, Sharon Luu, Katryn Furuya, Seth Berger, Eyby Leon
Published 2024-01-01
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P145: Microcephaly in atypical Silver-Russell syndrome caused by defects in PLAG1 by Wuyan Chen, Angela Gruber, McKenna Kyriss, Eric Bend, Rachel Sullivan, Kim Keppler-Noreuil
Published 2023-01-01
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