@article{fradin:hal-03006935,
TITLE = {ATP7A mutation with occipital horns and distal motor neuropathy: A continuum},
AUTHOR = {Fradin, Melanie and Lavillaureix, Alinoe and Jaillard, Sylvie and Quelin, Chloe and Sauleau, Paul and Minot, Marie-Christine and Menard, Dominique and Edan, Gilles and Ceballos, Irene and Tr{\'e}guier, Catherine and Proisy, Maia and Magdelaine, Corinne and Lia, A.-S. and Odent, Sylvie and Pasquier, Laurent},
URL = {https://hal.science/hal-03006935},
JOURNAL = {European Journal of Medical Genetics},
PUBLISHER = {Elsevier},
VOLUME = {63},
NUMBER = {12},
PAGES = {104087},
YEAR = {2020},
MONTH = Oct, DOI = {10.1016/j.ejmg.2020.104087},
KEYWORDS = {ATP7A ; Dysautonomia ; Menkes disease ; Occipital horn syndrome ; X-linked distal spinal muscular atrophy-3},
PDF = {https://hal.science/hal-03006935/file/S1769721220307977.pdf},
HAL_ID = {hal-03006935},
HAL_VERSION = {v1},
}