Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability (2023)
- Authors:
- Dantas, Naiara Castelo Branco
- Funari, Mariana Ferreira de Assis
- Lerario, Antonio Marcondes
- Andrade, Nathalia Liberatoscioli Menezes
- Rezende, Raissa Carneiro
- Cellin, Laurana de Polli
- Alves, Cresio
- Crisóstomo, Lindiane Gomes
- Arnhold, Ivo Jorge Prado
- Mendonca, Berenice Bilharinho de
- Scalco, Renata da Cunha
- Jorge, Alexander Augusto de Lima
- Dantas, Naiara Castelo Branco
- USP affiliated authors: LERÁRIO, ANTONIO MARCONDES - FM ; ARNHOLD, IVO JORGE PRADO - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; DANTAS, NAIARA CASTELO BRANCO - FM ; ANDRADE, NATHALIA LIBERATOSCIOLI MENEZES DE - FM ; REZENDE, RAÍSSA CARNEIRO - FM ; CELLIN, LAURANA DE POLLI - FM
- Unidade: FM
- DOI: 10.1093/ejendo/lvad128
- Subjects: GENES HOMEOBOX; DIVERSIDADE GENÉTICA; NANISMO
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: European journal of endocrinology
- ISSN: 0804-4643
- Volume/Número/Paginação/Ano: v. 189, n. 3, p. 387-395, 2023
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
DANTAS, Naiara Castelo Branco et al. Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability. European journal of endocrinology, v. 189, n. 3, p. 387-395, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/57310. Acesso em: 12 nov. 2024. -
APA
Dantas, N. C. B., Funari, M. F. de A., Lerario, A. M., Andrade, N. L. M., Rezende, R. C., Cellin, L. de P., et al. (2023). Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability. European journal of endocrinology, 189( 3), 387-395. doi:10.1093/ejendo/lvad128 -
NLM
Dantas NCB, Funari MF de A, Lerario AM, Andrade NLM, Rezende RC, Cellin L de P, Alves C, Crisóstomo LG, Arnhold IJP, Mendonca BB de, Scalco R da C, Jorge AA de L. Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability [Internet]. European journal of endocrinology. 2023 ; 189( 3): 387-395.[citado 2024 nov. 12 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57310 -
Vancouver
Dantas NCB, Funari MF de A, Lerario AM, Andrade NLM, Rezende RC, Cellin L de P, Alves C, Crisóstomo LG, Arnhold IJP, Mendonca BB de, Scalco R da C, Jorge AA de L. Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability [Internet]. European journal of endocrinology. 2023 ; 189( 3): 387-395.[citado 2024 nov. 12 ] Available from: https://observatorio.fm.usp.br/handle/OPI/57310 - Adult Height of Patients with <it><bold>SHOX</it></bold> Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
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- GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects
- The sitting heigh/height ratio for age is a simple and useful tool to select children with idiopathic short stature for SHOX studies
Informações sobre o DOI: 10.1093/ejendo/lvad128 (Fonte: oaDOI API)
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