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

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TitreDe novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Type de publicationJournal Article
Year of Publication2019
AuteursLehalle D., Vabres P., Bierhals T., Cho M.T, Cogne B., Avila M., Carmignac V., Duplomb-Jego L., De Bont E., Duffourd Y., Duijkers F., Elpeleg O., Fattal-Valevski A., Genevieve D., Guimier A., Harris D., Hempel M., Isidor B., Jouan T., Kuentz P., Lichtenbelt K., V. Ramey L, Pasquier L., St-Onge J., Sorlin A., Thevenon J., Torti E., Van Gassen K., Van Haelst M., van Koningsbruggen S., Riviere J., Thauvin C., Betschinger J., Faivre L.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination1094
Date PublishedOCT
Type of ArticleMeeting Abstract
ISSN1018-4813