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Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild
Ann Pediatr Endocrinol Metab. 2021;26(1):60-65.   Published online August 7, 2020
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A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay
Maria-Christina Antoniou, Thérèse Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Almer van der Sloot, James Acierno, Daniele Cassatella, Celine Richard, Andrew Dwyer, Nelly Pitteloud, Michael Hauschild
Ann Pediatr Endocrinol Metab. 2019;24(1):49-54.   Published online March 31, 2019
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