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Published in 2022 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_442_21
Abstract: Annals of Indian Academy of Neurology ¦ Volume 25 ¦ Issue 4 ¦ July-August 2022 781 NM_003587.4; c.1744T>A [p.Phe582Ile]). The second individual was a female who presented with dysmorphic features and cystic kidneys; she died…
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Keywords:
neurology;
progressive fulminant;
variant dhx16;
fulminant necrotizing ... See more keywords