Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty
These findings suggest that SLDP involves both monogenic and polygenic mechanisms, with novel candidate genes contributing to its genetic basis. The association of INHBB with pubertal timing underscores its potential role in SLDP pathophysiology.
Authors
- Raíssa Rezende (ORCID: https://orcid.org/0000-0002-7207-5576)
- Ana Cláudia Latronico (ORCID: https://orcid.org/0000-0001-6782-693X)
- Yee-Ming Chan (ORCID: https://orcid.org/0000-0003-0554-8502)
- Ken K. Ong (ORCID: https://orcid.org/0000-0003-4689-7530)
- Naiara Castelo Branco Dantas (ORCID: https://orcid.org/0000-0001-6611-3364)
- Elaine de Paula Fiod Costa (ORCID: https://orcid.org/0000-0001-9357-2427)
- Lena R Kaisinger (ORCID: https://orcid.org/0000-0002-0849-3191)
- John R. B. Perry (ORCID: https://orcid.org/0000-0001-6483-3771)
- Nathalia Liberatoscioli Menezes De Andrade (ORCID: https://orcid.org/0000-0002-1628-7881)
- Priscila Sales Barroso (ORCID: https://orcid.org/0000-0001-5559-3884)
- Sasha Howard (ORCID: https://orcid.org/0000-0002-6698-903X)
- Paulina M. Merino (ORCID: https://orcid.org/0000-0001-8725-6348)
- Katherine A. Kentistou (ORCID: https://orcid.org/0000-0002-5816-664X)
- Leo Dunkel (ORCID: https://orcid.org/0000-0003-4008-8521)
- Antônio Marcondes Lerário (ORCID: https://orcid.org/0000-0002-8336-6432)
- Elisangela P S Quedas (ORCID: https://orcid.org/0000-0002-0337-7132)
- Romina P. Grinspon (ORCID: https://orcid.org/0000-0002-6291-1518)
- Rodolfo Alberto Rey (ORCID: https://orcid.org/0000-0002-1100-3843)
- Laurana P Cellin
- Verónica Mericq (ORCID: https://orcid.org/0000-0003-2287-0181)
- Wei He (ORCID: https://orcid.org/0000-0001-5801-9044)
- Stephanie B Seminara
- Evan C Schafer
- Aristeides Giannakopoulos
Institutions
- Boston Children's Hospital (US)
- Harvard University (US)
- Consejo Nacional de Investigaciones Científicas y Técnicas (AR)
- Queen Mary University of London (GB)
- University of Cambridge (GB)
- University of Michigan (US)
- Massachusetts General Hospital (US)
- Cambridge School (PT)
- Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR)
- William Harvey Research Institute (GB)
- MRC Epidemiology Unit (GB)
- Hospital General de Niños Ricardo Gutierrez (AR)
- University of Chile (CL)
Publication Details
- Journal
- European Journal of Endocrinology
- Published
- 2025-03-27
- DOI
- https://doi.org/10.1093/ejendo/lvaf061
- Primary Topic
- RNA modifications and cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00