Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM ∗246200): The Impact of Consanguineous Mating

Donohue syndrome ([DS]; leprechaunism) describes a genetic autosomal recessive disorder that results from the presence of homozygous or compound heterozygous mutations in the insulin receptor gene (INSR; 19p13.3–p13.2). Donohue syndrome is associated with a fatal congenital form of dwarfism with fea...

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Detalles Bibliográficos
Autores principales: Nijim, Yousif, Awni, Youssef, Adawi, Amin, Bowirrat, Abdalla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753905/
https://www.ncbi.nlm.nih.gov/pubmed/26871809
http://dx.doi.org/10.1097/MD.0000000000002710

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