Scholars@Duke
Sandeep Puri

Sandeep Puri

Medical Assistant Professor in the Department of Pediatrics
Pediatrics, Gastroenterology, Hepatology and Nutrition
1016 Lower Shiloh Way, Apartment 2404, Morrisville, NC 27560

Scholarly Works

A Case of MIRAGE Syndrome with SAMD9 Mutation and Refractory Infantile Diarrhea: Endoscopic Biopsy Evaluation via Light and Electron Microscopy.

Journal article Pediatr Dev Pathol · 2025 An infant with intrauterine growth restriction, suspected of having MIRAGE syndrome based on prenatal ultrasound, presented with genital ambiguity, adrenal insufficiency, intractable diarrhea from birth, and a pathogenic SAMD9 mutation (c.1376G>A, p.R459Q) ... Full text Link to item Cite