Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient

A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the INPP5E gene confirmed the diagnosis of MORMS (OMIM #610156). A novel clinical finding in the presented syndrome is progressive con...

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Detalles Bibliográficos
Publicado en:Front Endocrinol (Lausanne)
Autores principales: Drole Torkar, Ana, Avbelj Stefanija, Magdalena, Bertok, Sara, Trebušak Podkrajšek, Katarina, Debeljak, Maruša, Stirn Kranjc, Branislava, Battelino, Tadej, Kotnik, Primož
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8241224/
https://ncbi.nlm.nih.gov/pubmed/34211432
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2021.581134
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