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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 | |
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Ann Pediatr Endocrinol Metab. 2019;24(1):49-54. Published online March 31, 2019 DOI: https://doi.org/10.6065/apem.2019.24.1.49 |
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A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay Annals of Pediatric Endocrinology & Metabolism. 2019;24(1):49-54  Hypothalamic germinoma presenting as delayed pubertal development Adolescent and Pediatric Gynecology. 1993;6(4):223-228 Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene Endocrinology, Diabetes & Metabolism Case Reports. 2018;2018: Prenatal diagnosis of CHARGE syndrome by identification of a novel CHD7 mutation in a previously unaffected family Prenatal Diagnosis. 2012;32(7):692-694 A Novel Heterozygous Mutation in Steroidogenic Factor-1 in Pubertal Virilization of a 46,XY Female Adolescent Journal of Pediatric and Adolescent Gynecology. 2014;27(2):98-101 Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy Frontiers in Pediatrics. 2021;9: Pubertal delay as an aid in diagnosis and treatment of a transsexual adolescent European Child & Adolescent Psychiatry. 1998;7(4):246-248 Pubertal Delay, Hypokalemia, and Hypertension Caused by a Rare Form of Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology. 2011;24(2):e29-e31 Female Pubertal Growth and Development Journal of Pediatric and Adolescent Gynecology. 2005;18(5):363-366 Two Cases Presenting With Pubertal Delay and Diagnosed as Celiac Disease Clinical Pediatrics. 2008;47(6):607-609 |
