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

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

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

Affiliation

Abdalla E; Department of Human Genetics, Medical Research Institute, University of Alexandria, Egypt. Electronic address: emnasr@kau.edu.sa.
Ravenscroft G; Harry Perkins Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
Zayed L; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Alexandria, Egypt.
Beecroft SJ; Harry Perkins Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
Laing NG; Harry Perkins Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.

Neuromuscul Disord ; 27(6): 537-541, 2017 Jun.

Article in En | MEDLINE | ID: mdl-28336317

Subject(s)
Key words

Fetal akinesia; Lethal multiple pterygium syndrome; Nebulin gene

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Abnormalities / Abnormalities, Multiple / Aborted Fetus / Malignant Hyperthermia / Muscle Proteins / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Female / Humans / Pregnancy Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2017 Document type: Article Country of publication: Reino Unido

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