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- Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8
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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
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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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