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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...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2016
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Materias: | |
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 |