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

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...

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Bibliographic Details
Main Authors: Ana Drole Torkar, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Trebušak Podkrajšek, Maruša Debeljak, Branislava Stirn Kranjc, Tadej Battelino, Primož Kotnik
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Endocrinology
Subjects:
MORMS
INPP5E gene
monogenic obesity
retinal dystrophy
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.581134/full

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https://www.frontiersin.org/articles/10.3389/fendo.2021.581134/full

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