Affiliation: | 1. Institut National de la Sante et de la Recherche Médicale U781 and Service de Génétique, H?pital Necker‐Enfants Malades, Paris, France;2. E.S. and S.G. contributed equally to this article.;3. Institute of Medical Technology and Tampere University Hospital, Tampere, Finland;4. Laboratoire de Biochimie, H?pital du Kremlin‐Bicêtre, Le Kremlin‐Bicêtre, France |