De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
Year: 2019
Type: conference-paper
Source: Pure Amsterdam UMC
Authors: Daphné Lehalle, P. Vabres, Tatjana Bierhals, Megan T Cho, Benjamin Cogné, M. Avila, Virginie Carmignac, L. Duplomb-Jego, Eveline de Bont, Yannis Duffourd, Floor A.M. Duijkers, Orly Elpeleg, Aviva Fattal‐Valevski, David Geneviève, Anne Guimier, D. James Harris, Maja Hempel, Bertrand Isidor, Thibaud Jouan, Paul Kuentz, Klaske D. Lichtenbelt, Valerie Loik Ramey, Laurent Pasquier, Judith St‐Onge, Arthur Sorlin, Julien Thévenon, Erin Torti, Koen L.I. van Gassen, Mieke M. van Haelst, Silvana van Koningsbruggen, Jean‐Baptiste Rivière, Christel Thauvin, Joerg Betschinger, Laurence Faivre
Language: English
Subfield: Dermatology
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W3092958946