Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations-Reference-Cited by-同舟云学术

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

Published:2019-08-13 Issue:12 Volume:61 Page:1439-1447
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Remerand Ganaelle¹,Boespflug‐Tanguy Odile²³,Tonduti Davide⁴⁵,Touraine Renaud⁶,Rodriguez Diana⁷⁸,Curie Aurore⁹,Perreton Nathalie¹⁰,Des Portes Vincent⁹,Sarret Catherine¹¹¹^ORCID,Afenjar Alexandra,Burglen Lydie,Castellotti Barbara,Cuntz Danielle,Desguerre Isabelle,Doummar Diane,Estienne Margherita,Freri Elena,Heron Delphine,Moutard Marie‐Laure,Novara Francesca,Orcesi Simona,Saletti Veronica,Zibordi Federica,

Affiliation:

1. Centre de Compétence des Leucodystrophies et Leucoencéphalopathies de Cause Rare Pôle Femme et Enfant Hôpital Estaing Centre Hospitalier Universitaire de Clermont‐Ferrand Clermont‐FerrandFrance

2. Centre de Référence des Leucodystrophies et Leucoencéphalopathies de Cause Rare Service de Neurologie Pédiatrique Hôpital Robert DebréAssistance Publique‐Hôpitaux de Paris ParisFrance

3. NeuroDiderot INSERM UMR1141 Université Paris Diderot Paris France

4. Unit of Child Neurology Fondazione IRCCS Istituto Neurologico Carlo Besta MilanItaly

5. Unit of Child Neurology V. Buzzi Children's Hospital Milan Italy

6. Service de Génétique Centre Hospitalier Universitaire de Saint‐Etienne Saint‐EtienneFrance

7. Sorbonne Université GRC no. 19 Pathologies Congénitales du Cervelet‐LeucoDystrophies Assistance Publique‐Hôpitaux de Paris Hôpital Armand Trousseau ParisFrance

8. Centre de Référence Neurogénétique Service de Neurologie Pédiatrique Assistance Publique‐Hôpitaux de Paris Hôpital Armand Trousseau ParisFrance

9. Centre de Référence des Déficiences Intellectuelles de Cause Rare Service de Neurologie Pédiatrique Centre Hospitalier Universitaire de Lyon Hôpital Femme‐Mère‐Enfant LyonFrance

10. CIC 1407Inserm Centre Hospitalo‐Universitaire de Lyon LyonFrance

11. IGCNC Université Clermont Auvergne CNRS SIGMA Clermont Institut Pascal Clermont‐Ferrand France

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14332

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