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

D. Lehalle; P. Vabres; T. Bierhals; M. T. Cho; B. Cogne; M. Avila; V. Carmignac; L. Duplomb-Jego; E. De Bont; Y. Duffourd; F. Duijkers; O. Elpeleg; A. Fattal-Valevski; D. Genevieve; A. Guimier; D. Harris; M. Hempel; B. Isidor; T. Jouan; P. Kuentz; K. Lichtenbelt; V. Loik Ramey; L. Pasquier; J. St-Onge; A. Sorlin; J. Thevenon; E. Torti; K. Van Gassen; M. Van Haelst; S. van Koningsbruggen; J. Riviere; C. Thauvin; J. Betschinger; L. Faivre

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

D. Lehalle
, P. Vabres
, T. Bierhals
, M. T. Cho
, B. Cogne
, M. Avila
, V. Carmignac
, L. Duplomb-Jego
, E. De Bont
, Y. Duffourd
, F. Duijkers
, O. Elpeleg
, A. Fattal-Valevski
, D. Genevieve
, A. Guimier
, D. Harris
, M. Hempel
, B. Isidor
, T. Jouan
, P. Kuentz

K. Lichtenbelt, V. Loik Ramey, L. Pasquier, J. St-Onge, A. Sorlin, J. Thevenon, E. Torti, K. Van Gassen, M. Van Haelst, S. van Koningsbruggen, J. Riviere, C. Thauvin, J. Betschinger, L. Faivre

Research output: Contribution to journal › Meeting Abstract › Academic

Original language	English
Pages (from-to)	1094-1094
Journal	European Journal of Human Genetics
Volume	27
Publication status	Published - Oct 2019

Cite this

Lehalle, 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., ... Faivre, L. (2019). De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. European Journal of Human Genetics, 27, 1094-1094.

@article{92f01f4d0ea148fea7558029724cc7e7,

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

author = "D. Lehalle and P. Vabres and T. Bierhals and Cho, \{M. T.\} and B. Cogne and M. Avila and V. Carmignac and L. Duplomb-Jego and \{De Bont\}, E. and Y. Duffourd and F. Duijkers and O. Elpeleg and A. Fattal-Valevski and D. Genevieve and A. Guimier and D. Harris and M. Hempel and B. Isidor and T. Jouan and P. Kuentz and K. Lichtenbelt and Ramey, \{V. Loik\} and L. Pasquier and J. St-Onge and A. Sorlin and J. Thevenon and E. Torti and \{Van Gassen\}, K. and \{Van Haelst\}, M. and \{van Koningsbruggen\}, S. and J. Riviere and C. Thauvin and J. Betschinger and L. Faivre",

year = "2019",

month = oct,

language = "English",

volume = "27",

pages = "1094--1094",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

}

Lehalle, D, Vabres, P, Bierhals, T, Cho, MT, 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, Ramey, VL, 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 2019, 'De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features', European Journal of Human Genetics, vol. 27, pp. 1094-1094.

TY - JOUR

T1 - De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

AU - Lehalle, D.

AU - Vabres, P.

AU - Bierhals, T.

AU - Cho, M. T.

AU - Cogne, B.

AU - Avila, M.

AU - Carmignac, V.

AU - Duplomb-Jego, L.

AU - De Bont, E.

AU - Duffourd, Y.

AU - Duijkers, F.

AU - Elpeleg, O.

AU - Fattal-Valevski, A.

AU - Genevieve, D.

AU - Guimier, A.

AU - Harris, D.

AU - Hempel, M.

AU - Isidor, B.

AU - Jouan, T.

AU - Kuentz, P.

AU - Lichtenbelt, K.

AU - Ramey, V. Loik

AU - Pasquier, L.

AU - St-Onge, J.

AU - Sorlin, A.

AU - Thevenon, J.

AU - Torti, E.

AU - Van Gassen, K.

AU - Van Haelst, M.

AU - van Koningsbruggen, S.

AU - Riviere, J.

AU - Thauvin, C.

AU - Betschinger, J.

AU - Faivre, L.

PY - 2019/10

Y1 - 2019/10

M3 - Meeting Abstract

SN - 1018-4813

VL - 27

SP - 1094

EP - 1094

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -