Novel Insights Into Monogenic Obesity Syndrome Due to <i>INPP5E</i> Gene Variant: A Case Report of a Female Patient.

Drole Torkar, Ana; Avbelj Stefanija, Magdalena; Bertok, Sara; Trebusak Podkrajsek, Katarina; Debeljak, Marusa; Stirn Kranjc, Branislava; Battelino, Tadej; Kotnik, Primoz

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

Drole Torkar, Ana; Avbelj Stefanija, Magdalena; Bertok, Sara; Trebusak Podkrajsek, Katarina; Debeljak, Marusa; Stirn Kranjc, Branislava; Battelino, Tadej; Kotnik, Primoz.

Afiliação

Drole Torkar A; University Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Avbelj Stefanija M; University Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Bertok S; University Children's Hospital, Department of Endocrinology, Diabetes and Metabolism, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Trebusak Podkrajsek K; University Children's Hospital, Unit of Special Laboratory Diagnostics, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Debeljak M; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Stirn Kranjc B; University Children's Hospital, Unit of Special Laboratory Diagnostics, Ljubljana University Medical Centre, Ljubljana, Slovenia.
Battelino T; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Kotnik P; University Eye Hospital, Ljubljana University Medical Centre, Ljubljana, Slovenia.

Front Endocrinol (Lausanne) ; 12: 581134, 2021.

Article em En | MEDLINE | ID: mdl-34211432

Assuntos

Anormalidades Múltiplas/genética; Oftalmopatias/genética; Deficiência Intelectual/genética; Obesidade/genética; Doenças do Pênis/genética; Monoéster Fosfórico Hidrolases/genética; Anormalidades Múltiplas/diagnóstico; Adolescente; Oftalmopatias/diagnóstico; Feminino; Humanos; Deficiência Intelectual/diagnóstico; Obesidade/diagnóstico; Doenças do Pênis/diagnóstico; Fenótipo

Palavras-chave

INPP5E gene; MORMS; case report; monogenic obesity; retinal dystrophy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Pênis / Anormalidades Múltiplas / Monoéster Fosfórico Hidrolases / Oftalmopatias / Deficiência Intelectual / Obesidade Tipo de estudo: Diagnostic_studies Limite: Adolescent / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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