Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review

BACKGROUND: Möbius (Moebius) and Poland’s syndromes are two rare congenital syndromes characterized by non-progressive bilateral (and often asymmetric) dysfunction of the 6(th) and 7(th) cranial nerves and hypoplasia of the pectoral muscles associated with chest wall and upper limb anomalies respect...

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Detalles Bibliográficos
Autores principales: Glass, Graeme E., Mohammedali, Shiyas, Sivakumar, Bran, Stotland, Mitchell A., Abdulkader, Faisal, Prosser, Debra O., Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801559/
https://www.ncbi.nlm.nih.gov/pubmed/36581828
http://dx.doi.org/10.1186/s12887-022-03803-3

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