Article info
PDFDevelopmental defects
Original research
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
- Correspondence to Dr Daphné Lehalle, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon et Université de Bourgogne, Dijon, France; daphne.lehalle{at}aphp.fr
Citation
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Publication history
- Received September 10, 2019
- Revised February 16, 2020
- Accepted February 22, 2020
- First published May 14, 2020.
Online issue publication
November 24, 2020
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© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.