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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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Hypogonadotropic Hypogonadism and Abnormal Olfactory Bulb Development in CHARGE Syndrome with CHD7 Mutation.
Sun Hyang Lee, Yong Wha Lee, Young Lim Shin
Ann Pediatr Endocrinol Metab. 2009;14(1):68-72.
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