Ana Drole Torkar Magdalena Avbelj Stefanija Sara Bertok Katarina Trebušak Podkrajšek Maruša Debeljak Branislava Stirn Kranjc Tadej Battelino Primož Kotnik
10.3389/fendo.2021.581134
Front Endocrinol (Lausanne)
2021 Jun 15;12:581134.
inpp5e gene morms case report monogenic obesity retinal dystrophy
CC BY
https://pubmed.ncbi.nlm.nih.gov/34211432/
Abnormalities, Multiple / genetics Eye Diseases / genetics Intellectual Disability / genetics Obesity / genetics Penile Diseases / genetics Phosphoric Monoester Hydrolases / genetics
Abnormalities, Multiple / genetics Eye Diseases / genetics Intellectual Disability / genetics Obesity / genetics Penile Diseases / genetics Phosphoric Monoester Hydrolases / genetics Case Reports Abnormalities, Multiple / diagnosis Adolescent Eye Diseases / diagnosis Female Humans Intellectual Disability / diagnosis Obesity / diagnosis Penile Diseases / diagnosis Phenotype Phosphoric Monoester Hydrolases phosphoinositide 5-phosphatase MORM syndrome
PMC8241224
34211432
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient
2021