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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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A TNXB splice donor site variant as a cause of hypermobility type Ehlers–Danlos syndrome in patients with congenital adrenal hyperplasia by Qizong Lao, Ashwini Mallappa, Fabio Rueda Faucz, Elizabeth Joyal, Padmasree Veeraraghavan, Wuyan Chen, Deborah P. Merke
Published 2021-02-01
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