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 acesso aberto
- Este artigo NÃO é de acesso aberto
-
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: 11 fev. 2026. -
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 2026 fev. 11 ] 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 2026 fev. 11 ] Available from: https://doi.org/10.1210/jc.2016-3313 - 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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Informações sobre o DOI: 10.1210/jc.2016-3313 (Fonte: oaDOI API)
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