Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene-Reference-Cited by-同舟云学术

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene

Published:2017-06 Issue:6 Volume:27 Page:537-541
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Abdalla Ebtesam,Ravenscroft Gianina,Zayed Louay,Beecroft Sarah J.,Laing Nigel G.

Funder

National Health and Medical Research Council of Australia

Association Française contre les Myopathies

Department of Health

The Fred Liuzzi Foundation

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference25 articles.

1. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects;Hall;J Pediatr Orthop B,1997

2. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited;Hall;Birth Defects Res A Clin Mol Teratol,2009

3. Analysis of Pena Shokeir phenotype;Hall;Am J Med Genet,1986

4. Fetal akinesia deformation sequence: an animal model;Moessinger;Pediatrics,1983

5. “Prevalence of rare diseases: bibliographic data”, Orphanet Report Series, Rare Diseases collection, March 2016 Number 1: diseases listed in alphabetical order. http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf.

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