Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?â©.

Sediva, Hana; Dusatkova, Petra; Kanderova, Veronika; Obermannova, Barbora; Kayserova, Jana; Sramkova, Lucie; Zemkova, Dana; Elblova, Lenka; Svaton, Michal; Zachova, Radana; Kolouskova, Stanislava; Fronkova, Eva; Sumnik, Zdenek; Sediva, Anna; Lebl, Jan; Pruhova, Stepanka

Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?â©.

Sediva, Hana; Dusatkova, Petra; Kanderova, Veronika; Obermannova, Barbora; Kayserova, Jana; Sramkova, Lucie; Zemkova, Dana; Elblova, Lenka; Svaton, Michal; Zachova, Radana; Kolouskova, Stanislava; Fronkova, Eva; Sumnik, Zdenek; Sediva, Anna; Lebl, Jan; Pruhova, Stepanka.

Afiliación

Sediva H; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Dusatkova P; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Kanderova V; Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Obermannova B; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Kayserova J; Department of Immunology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Sramkova L; Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Zemkova D; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Elblova L; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Svaton M; Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Zachova R; Department of Immunology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Kolouskova S; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Fronkova E; Department of Paediatric Haematology and Oncology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Sumnik Z; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Sediva A; Department of Immunology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Lebl J; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.
Pruhova S; Department of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

Horm Res Paediatr ; 88(2): 160-166, 2017.

Article en En | MEDLINE | ID: mdl-28253502

Asunto(s)

Enfermedades Autoinmunes/genética; Trastornos del Crecimiento/genética; Hormona de Crecimiento Humana/metabolismo; Mutación; Factor de Transcripción STAT3/genética; Transducción de Señal/genética; Enfermedades Autoinmunes/metabolismo; Niño; Preescolar; Resultado Fatal; Trastornos del Crecimiento/metabolismo; Humanos; Lactante; Recién Nacido; Masculino; Factor de Transcripción STAT3/metabolismo; Gemelos

Palabras clave

Activating mutation; Growth hormone; Growth hormone sensitivity; Growth hormone signal transduction; STAT3; STAT5â©; Short stature

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Transducción de Señal / Hormona de Crecimiento Humana / Factor de Transcripción STAT3 / Trastornos del Crecimiento / Mutación Límite: Child / Child, preschool / Humans / Infant / Male / Newborn Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2017 Tipo del documento: Article País de afiliación: República Checa

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