Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations (2017)
- Authors:
- Gkourogianni, Alexandra
- Andrew, Melissa
- Tyzinski, Leah
- Crocker, Melissa
- Douglas, Jessica
- Dunbar, Nancy
- Fairchild, Jan
- Funari, Mariana F. A.
- Heath, Karen E.
- Jorge, Alexander A. L.
- Kurtzman, Tracey
- LaFranchi, Stephen
- Lalani, Seema
- Lebl, Jan
- Lin, Yuezhen
- Los, Evan
- Newbern, Dorothee
- Nowak, Catherine
- Olson, Micah
- Popovic, Jadranka
- Průhová, Štěpánka
- Elblova, Lenka
- Quintos, Jose Bernardo
- Segerlund, Emma
- Sentchordi, Lucia
- Shinawi, Marwan
- Stattin, Eva-Lena
- Swartz, Jonathan
- del Angel, Ariadna González
- Cuéllar, Sinhué Diaz
- Hosono, Hidekazu
- Sanchez-Lara, Pedro A.
- Hwa, Vivian
- Baron, Jeffrey
- Nilsson, Ola
- Dauber, Andrew
- Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1210/jc.2016-3313
- Subjects: CRIANÇAS; MUTAÇAO GENÉTICA; ESTATURA
- Language: Inglês
- Imprenta:
- Publisher place: Springfield
- Date published: 2017
- Source:
- Título: Journal of clinical endocrinology and metabolism
- ISSN: 0021-972X
- Volume/Número/Paginação/Ano: v. 102, n. 2, p. 460-469, 2017
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
GKOUROGIANNI, Alexandra et al. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. Journal of clinical endocrinology and metabolism, v. 102, n. 2, p. 460-469, 2017Tradução . . Disponível em: https://doi.org/10.1210/jc.2016-3313. Acesso em: 16 jun. 2025. -
APA
Gkourogianni, A., Andrew, M., Tyzinski, L., Crocker, M., Douglas, J., Dunbar, N., et al. (2017). Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. Journal of clinical endocrinology and metabolism, 102( 2), 460-469. doi:10.1210/jc.2016-3313 -
NLM
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MFA, Heath KE, Jorge AAL, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Průhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin E-L, Swartz J, del Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations [Internet]. Journal of clinical endocrinology and metabolism. 2017 ; 102( 2): 460-469.[citado 2025 jun. 16 ] Available from: https://doi.org/10.1210/jc.2016-3313 -
Vancouver
Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MFA, Heath KE, Jorge AAL, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Průhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin E-L, Swartz J, del Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations [Internet]. Journal of clinical endocrinology and metabolism. 2017 ; 102( 2): 460-469.[citado 2025 jun. 16 ] Available from: https://doi.org/10.1210/jc.2016-3313 - Aplicação da genética molecular no manejo dos distúrbios do crescimento
- Deficiência da STAT5B: uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológico
- Growth hormone therapy in children; research and practice: a review
- Deficiências hipotálamo-hipofisárias múltiplas por mutações no gene GLI2
- Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): the journey towards appropriate treatment
- A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings
- Management of endocrine disease: Diagnostic and therapeutic approach of tall stature
- Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Abordagem clínica
Informações sobre o DOI: 10.1210/jc.2016-3313 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
