Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures" (2019)
- Authors:
- Autor USP: KIM, CHONG AE - FM
- Unidade: FM
- DOI: 10.1016/j.bone.2018.12.020
- Subjects: FIBRONECTINAS; MUTAÇÃO GENÉTICA; OSTEOCONDRODISPLASIAS; DOENÇAS MUSCULOSQUELÉTICAS
- Agências de fomento:
- Finnish Cultural Foundation/The Foundations' Post Doc Pool
- Financiado pelo CIHR
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
- Stockholm County Council
- Novo Nordisk Foundation [21322]
- Folkhalsan Research Foundation
- Sigrid Juselius Foundation
- Financiado pela AKA
- Swedish Research Council [2603]
- Language: Inglês
- Imprenta:
- Source:
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
COSTANTINI, Alice et al. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone, v. 121, p. 163-171, 2019Tradução . . Disponível em: https://doi.org/10.1016/j.bone.2018.12.020. Acesso em: 11 fev. 2026. -
APA
Costantini, A., Valta, H., Baratang, N. V., Yap, P., Bertola, D. R., Yamamoto, G. L., et al. (2019). Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures". Bone, 121, 163-171. doi:10.1016/j.bone.2018.12.020 -
NLM
Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures" [Internet]. Bone. 2019 ; 121 163-171.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1016/j.bone.2018.12.020 -
Vancouver
Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA. Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures" [Internet]. Bone. 2019 ; 121 163-171.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1016/j.bone.2018.12.020 - NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene
- Frequency of carriers for rare metabolic diseases in a Brazilian cohort of 320 patients
- Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18
- Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
- Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndrome
- Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
- Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma. [Carta]
- Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
- Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines
- Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients
Informações sobre o DOI: 10.1016/j.bone.2018.12.020 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
