SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling (2021)
- Authors:
- Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1016/j.ajhg.2020.11.015
- Subjects: OSSO E OSSOS; LINHAGEM CELULAR; OSTEOGÊNESE; TRANSDUÇÃO DE SINAL CELULAR; CAMUNDONGOS
- Agências de fomento:
- National Health Service
- NIHR Biomedical Research Centre OxfordNational Institute for Health Research (NIHR)
- Wellcome TrustWellcome Trust
- NHS England
- National Institute for Health ResearchNational Institute for Health Research (NIHR)
- Department of Science and Technology, Government of IndiaDepartment of Science & Technology (India)
- Ministry of Science, Research and Art Baden-Wurttemberg
- University of Tubingen Intramural Funding [fortune ]
- São Paulo Research FoundationFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [FAPESP]
- Ministry of Science and Technology of TaiwanMinistry of Science and Technology, Taiwan
- Academia SinicaAcademia Sinica - Taiwan
- Italian Ministry of HealthMinistry of Health, Italy
- Fondazione Bambino Gesu` (Vite Coraggiose)
- Language: Inglês
- Imprenta:
- Source:
- Título: American journal of human genetics
- ISSN: 0002-9297
- Volume/Número/Paginação/Ano: v. 108, n. 1, p. 115-133, 2021
- Status:
- Artigo possui acesso gratuito no site do editor (Bronze Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
LIN, Yuh-Charn et al. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. American journal of human genetics, v. 108, n. 1, p. 115-133, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2020.11.015. Acesso em: 01 abr. 2026. -
APA
Lin, Y. -C., Niceta, M., Muto, V., Vona, B., Pagnamenta, A. T., Maroofian, R., et al. (2021). SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. American journal of human genetics, 108( 1), 115-133. doi:10.1016/j.ajhg.2020.11.015 -
NLM
Lin Y-C, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, Duyvenvoorde H van, Dentici ML, Jorge AA de L. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling [Internet]. American journal of human genetics. 2021 ; 108( 1): 115-133.[citado 2026 abr. 01 ] Available from: https://doi.org/10.1016/j.ajhg.2020.11.015 -
Vancouver
Lin Y-C, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, Duyvenvoorde H van, Dentici ML, Jorge AA de L. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling [Internet]. American journal of human genetics. 2021 ; 108( 1): 115-133.[citado 2026 abr. 01 ] Available from: https://doi.org/10.1016/j.ajhg.2020.11.015 - 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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