Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
Valérie Malan(Hôpital Necker-Enfants Malades), Diana Rajan(Wellcome Sanger Institute), Sophie Thomas(Hôpital Necker-Enfants Malades), Adam Shaw(University College London), H. Louis Dit Picard(Hôpital Necker-Enfants Malades), Valérie Layet(Groupe Hospitalier du Havre), Marianne Till(Hôpital Femme Mère Enfant), Arie van Haeringen(Leiden University Medical Center), Geert Mortier(Antwerp University Hospital), Sheela Nampoothiri(Amrita Institute of Medical Sciences and Research Centre), Silvija Pušeljić(University Hospital Centre Zagreb), Laurence Legeai‐Mallet(Hôpital Necker-Enfants Malades), Nigel P. Carter(Wellcome Sanger Institute), Michel Vekemans(Hôpital Necker-Enfants Malades), Arnold Münnich(Hôpital Necker-Enfants Malades), Raoul C. M. Hennekam(Amsterdam UMC Location University of Amsterdam), Laurence Colleaux(Hôpital Necker-Enfants Malades), Valérie Cormier‐Daire(Hôpital Necker-Enfants Malades)
Cited by 173Open Access
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