First report of SYNE1 arthrogryposis multiplex congenita from Saudi Arabia with a novel mutation: a case report

BACKGROUND: Myogenic Arthrogryposis Multiplex Congenita type 3 (AMC-3), is a rare congenital condition characterized by severe hypotonia, club feet, and multiple joint contractures often affecting both arms and legs which start prior to birth. CASE PRESENTATION: We report a full-term neonate born to...

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Detalles Bibliográficos
Autores principales: Kamal, Naglaa M., Alzeky, AlaaEddin M., Omair, Maher R., Attar, Ruwayd A., Alotaibi, Abdullah M., Safar, Abdullah, Alosaimi, Nawal S., Abosabie, Sara A. S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9229910/
https://www.ncbi.nlm.nih.gov/pubmed/35739559
http://dx.doi.org/10.1186/s13052-022-01301-x

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