FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.

IF 4.1 Q1 CLINICAL NEUROLOGY Brain communications Pub Date : 2024-09-25 eCollection Date: 2024-01-01 DOI:10.1093/braincomms/fcae330
Laura M Watts, David J Bunyan, Edoardo Giacopuzzi, Susan Walker, Gabriella Gazdagh, N Simon Thomas, Volker Straub, Anne-Marie Childs, Joan Forsyth, Julie Vogt, Shagufta Khan, Tracey A Willis, Jenny C Taylor, Alistair T Pagnamenta
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父系 UPD6 导致的 FILIP1 相关神经肌肉疾病和表型混合。
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