Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome-Reference-Cited by-同舟云学术

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome

Published:2018-07-28 Issue:8 Volume:176 Page:1760-1763
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet Part A

Author:

Renard Dimitri¹^ORCID,Taieb Guillaume¹,Garibaldi Matteo²³,Maues De Paula Andre⁴,Bernard Rafaelle⁵⁶,Lagha Nadira⁷,Cristofari Gael⁷⁸,Vovan Catherine⁵,Chaix Charlène⁵,Lévy Nicolas⁵⁶,Khau Van Kien Philippe⁹,Sacconi Sabrina²⁷

Affiliation:

1. Department of Neurology; CHU Nîmes, Hôpital Caremeau; Nîmes France

2. Peripheral Nervous System, Muscle and ALS Department; Nice University Hospital, Université Côte d'Azur; Nice France

3. Faculty of Medicine and Psychology; Sapienza University of Rome; Rome Italy

4. Neuropathology Laboratory, Faculty of Medicine of Marseille; Assistance Publique-Hôpitaux de Marseille, La Timone Hospital; Marseille France

5. Medical Genetic Department, Assistance Publique-Hôpitaux de Marseille; La Timone Hospital; Aix-Marseille University; Marseille France

6. INSERM GMGF UMR_S910; Marseille France

7. Faculty of Medicine; Institute for Research on Cancer and Aging of Nice (IRCAN), INSERM U1081, CNRS UMR 7284, Université Côte d'Azur (UCA); Nice France

8. University Hospital Federation (FHU) OncoAge, CHU-Nice, University of Nice Sophia Antipolis; Nice France

9. Medical Genetics and Cytogenetics; CHU Nîmes, Hôpital Caremeau; Nîmes France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38843/fullpdf

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2. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptom carriers;Gaillard;Neurology,2014

3. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development;Gordon;Nature Genetics,2017