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A case of a Jordanian male twin with Cohen's syndrome, with genetic analysis and muscle biopsy; case report

INTRODUCTION AND IMPORTANCE: Cohen's syndrome is a rare autosomal recessive developmental disorder. It usually presents with a wide variety of muscular, neurological and ophthalmological clinical features. In this report, we present a rare case of the first Jordanian male identical twin with Co...

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Detalles Bibliográficos
Autores principales: Ghzawi, Ansam, Hirbawi, Hawazen, Negida, Ahmad, Abu-Farsakh, Hussam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8606835/
https://www.ncbi.nlm.nih.gov/pubmed/34840762
http://dx.doi.org/10.1016/j.amsu.2021.103014