MIRAGE Syndrome Caused by a <i>De Novo</i> c.3406G>C (p. Glu1136Gln) Mutation in the <i>SAMD9</i> Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.

Chin, Xinyi; Sreedharan, Aravind Venkatesh; Tan, Ene Choo; Wei, Heming; Kuan, Jyn Ling; Ho, Christopher Wen Wei; Lam, Joyce Ching Mei; Ting, Teck Wah; Vasanwala, Rashida Farhad

MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.

Chin, Xinyi; Sreedharan, Aravind Venkatesh; Tan, Ene Choo; Wei, Heming; Kuan, Jyn Ling; Ho, Christopher Wen Wei; Lam, Joyce Ching Mei; Ting, Teck Wah; Vasanwala, Rashida Farhad.

Afiliação

Chin X; Department of Paediatric Medicine, Endocrinology Service, KK Women's and Children's Hospital, Singapore, Singapore.
Sreedharan AV; Department of Paediatric Medicine, Endocrinology Service, KK Women's and Children's Hospital, Singapore, Singapore.
Tan EC; KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
Wei H; SingHealth Duke-NUS Paediatric Academic Clinical Programme, Singapore, Singapore.
Kuan JL; KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
Ho CWW; SingHealth Duke-NUS Institute of Precision Medicine (PRISM), Singapore, Singapore.
Lam JCM; Department of Paediatric Medicine, Gastroenterology Hepatology & Nutrition Service, KK Women's and Children's Hospital, Singapore, Singapore.
Ting TW; Department of Paediatric Subspecialties, Haematology/Oncology Service, KK Women's and Children's Hospital, Singapore, Singapore.
Vasanwala RF; Department of Paediatric Medicine, Genetics Service, KK Women's and Children's Hospital, Singapore, Singapore.

Front Endocrinol (Lausanne) ; 12: 742495, 2021.

Article em En | MEDLINE | ID: mdl-34659124

Assuntos

Hiperplasia Suprarrenal Congênita/genética; Peptídeos e Proteínas de Sinalização Intracelular/genética; Intussuscepção/genética; Doenças das Glândulas Suprarrenais/genética; Feminino; Humanos; Recém-Nascido; Recém-Nascido Prematuro; Intussuscepção/congênito; Mutação; Nutrição Parenteral; Recidiva; Esteroides/uso terapêutico; Síndrome; Trombocitopenia/complicações

Palavras-chave

MIRAGE; SAMD9/SAMD9 mutations; adrenal hypoplasia; intussesception; primary adrenal insufficiency

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hiperplasia Suprarrenal Congênita / Peptídeos e Proteínas de Sinalização Intracelular / Intussuscepção Limite: Female / Humans / Newborn Idioma: En Revista: Front Endocrinol (Lausanne) Ano de publicação: 2021 Tipo de documento: Article

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