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Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia

OBJECTIVE: To investigate the molecular basis of muscle disease and gnathodiaphyseal dysplasia (GDD) in a large kindred with 11 (6 women and 5 men) affected family members. METHODS: We performed clinical assessment of 3 patients and collected detailed clinical and family history data on 8 additional...

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Detalles Bibliográficos
Autores principales:	Shaibani, Aziz, Khan, Shaida, Shinawi, Marwan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8290902/ https://www.ncbi.nlm.nih.gov/pubmed/34291158 http://dx.doi.org/10.1212/NXG.0000000000000612

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