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Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.

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Description scientific article published in April 2017
Author/s

author: Ida Vogel  Holger Thiele  Peter Nürnberg  Tae-Joon Cho  Janine Altmüller  Bernd Wollnik 

Publication date April 1, 2017
Language English
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