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Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Seung Heo, Ja-Hyun Jang, Jeesuk Yu
Ann Pediatr Endocrinol Metab. 2019;24(3):199-202.   Published online September 30, 2019
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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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A Novel Mutation of the Steroid 5-Alpha Reductase Type 2 (SRD5A2) Gene in a Korean Newborn with Ambiguous Genitalia.
Ran Hee Kim, Su Yung Kim, Han Wook Yoo, Gu Hwan Kim, Chong Kun Cheon
Ann Pediatr Endocrinol Metab. 2010;15(2):133-137.
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