Xinyi Chin Aravind Venkatesh Sreedharan Ene Choo Tan Heming Wei Jyn Ling Kuan Christopher Wen Wei Ho Joyce Ching Mei Lam Teck Wah Ting Rashida Farhad Vasanwala
10.3389/fendo.2021.742495
Front Endocrinol (Lausanne)
2021 Sep 29;12:742495.
mirage samd9/samd9 mutations adrenal hypoplasia intussesception primary adrenal insufficiency
CC BY
https://pubmed.ncbi.nlm.nih.gov/34659124/
Adrenal Hyperplasia, Congenital / genetics Intracellular Signaling Peptides and Proteins / genetics Intussusception / genetics
Adrenal Hyperplasia, Congenital / genetics Intracellular Signaling Peptides and Proteins / genetics Intussusception / genetics Case Reports Research Support, Non-U.S. Gov't Adrenal Gland Diseases / genetics Female Humans Infant, Newborn Infant, Premature Intussusception / congenital Mutation Parenteral Nutrition Recurrence Steroids / therapeutic use Syndrome Thrombocytopenia / complications Intracellular Signaling Peptides and Proteins SAMD9 protein, human Steroids
PMC8511671
34659124
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
2021