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De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

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Description scientific article published on 14 May 2020
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author: Ivon Cuscó  Edgard Verdura  Daphné Lehalle  Benjamin Cogné  Laurie Simone  Laurence Olivier-Faivre  Paul Kuentz 

Publication date May 14, 2020
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