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

INTRODUCTION: Primary adrenal insufficiency (PAI) presenting in the neonatal period can be life threatening and requires early recognition, diagnosis, and management. PAI due to adrenal hypoplasia (syndromic/non-syndromic) is a rare disorder. MIRAGE is a recently described syndrome with PAI and mult...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8511671/
https://www.ncbi.nlm.nih.gov/pubmed/34659124
http://dx.doi.org/10.3389/fendo.2021.742495

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