Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism (2013)
- Authors:
- USP affiliated authors: XAVIER, ANA CLAUDIA LATRÔNICO - FM ; MONTENEGRO, LUCIANA RIBEIRO - FM
- Unidade: FM
- Subjects: TRANSTORNOS GONADAIS; ENDOCRINOPATIAS; HIPODONTIA; HIPOGONADISMO
- Language: Inglês
- Imprenta:
- Source:
- Título: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 80, suppl. 1, p. 35, res. FC4-142, 2013
- Conference titles: European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting
-
ABNT
MONTENEGRO, Luciana R. et al. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 13 fev. 2026. , 2013 -
APA
Montenegro, L. R., Freitas, M. R., Trabarch, E. B., Kok, F., Xavier, A. C. L., & Silveira, L. G. (2013). Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Montenegro LR, Freitas MR, Trabarch EB, Kok F, Xavier ACL, Silveira LG. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. 2013 ; 80 35.[citado 2026 fev. 13 ] -
Vancouver
Montenegro LR, Freitas MR, Trabarch EB, Kok F, Xavier ACL, Silveira LG. Novel rare variants in POLR3A and POLR3B genes identified in 4H syndrome patients with and without isolated hypogonadotropic hypogonadism. Hormone Research in Paediatrics. 2013 ; 80 35.[citado 2026 fev. 13 ] - Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
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