Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants (2020)
- Authors:
- Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1210/clinem/dgaa218
- Subjects: RADIOGRAFIA; POLIMORFISMO; MUTAÇÃO; MÃO; ESTUDOS DE COORTES; CRIANÇAS
- Agências de fomento:
- Sao Paulo Research Foundation (FAPESP)Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2013/03236-5]
- Department of Health of the Basque Government [GV2017/111040]
- Carlos III Institute of Health of the Ministry of Economy and Competitiveness (Spain) - European Regional Development Fund [PI16-00073]
- Fundacion SEEP
- Ministerio de Economia y Empresa (MINECO) [SAF2015-66831-R, SAF2017-84646-R]
- Language: Inglês
- Imprenta:
- Publisher place: Washington
- Date published: 2020
- Source:
- Título: Journal of clinical endocrinology & metabolism
- ISSN: 0021-972X
- Volume/Número/Paginação/Ano: v. 105, n. 8, p. 2654-2666, 2020
- Status:
- Artigo possui acesso gratuito no site do editor (Bronze Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
SENTCHORDI-MONTANE, Lucia et al. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. Journal of clinical endocrinology & metabolism, v. 105, n. 8, p. 2654-2666, 2020Tradução . . Disponível em: https://doi.org/10.1210/clinem/dgaa218. Acesso em: 16 abr. 2026. -
APA
Sentchordi-Montane, L., Benito-Sanz, S., Aza-Carmona, M., Pereda, A., Parron-Pajares, M., Torre, C. de la, et al. (2020). Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants. Journal of clinical endocrinology & metabolism, 105( 8), 2654-2666. doi:10.1210/clinem/dgaa218 -
NLM
Sentchordi-Montane L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parron-Pajares M, Torre C de la, Vasques GA, Funari MFA, Travessa AM, Jorge AA de L. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants [Internet]. Journal of clinical endocrinology & metabolism. 2020 ; 105( 8): 2654-2666.[citado 2026 abr. 16 ] Available from: https://doi.org/10.1210/clinem/dgaa218 -
Vancouver
Sentchordi-Montane L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parron-Pajares M, Torre C de la, Vasques GA, Funari MFA, Travessa AM, Jorge AA de L. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants [Internet]. Journal of clinical endocrinology & metabolism. 2020 ; 105( 8): 2654-2666.[citado 2026 abr. 16 ] Available from: https://doi.org/10.1210/clinem/dgaa218 - The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?
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