Two Novel Variants and One Previously Reported Variant in the Insulin Receptor Gene in Two Cases with Severe Insulin Resistance Syndrome.

Dagdeviren Cakir, Aydilek; Saidov, Said; Turan, Hande; Ceylaner, Serdar; Özer, Yavuz; Kutlu, Tufan; Ercan, Oya; Evliyaoglu, Olcay

Dagdeviren Cakir, Aydilek; Saidov, Said; Turan, Hande; Ceylaner, Serdar; Özer, Yavuz; Kutlu, Tufan; Ercan, Oya; Evliyaoglu, Olcay.

Afiliação

Dagdeviren Cakir A; Department of Pediatric Endocrinology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Saidov S; Department of Pediatrics, Bona Dea International Hospital, Baku, Azerbaijan.
Turan H; Department of Pediatric Endocrinology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Ceylaner S; Intergen Genetics Center, Ankara, Turkey.
Özer Y; Department of Pediatric Endocrinology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Kutlu T; Department of Pediatric Gastroenterology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Ercan O; Department of Pediatric Endocrinology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Evliyaoglu O; Department of Pediatric Endocrinology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Mol Syndromol ; 11(2): 90-96, 2020 Jun.

Article em En | MEDLINE | ID: mdl-32655340

Palavras-chave

Acanthosis nigricans; Donohue syndrome; INSR; Rabson-Mendenhall syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Syndromol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Turquia

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