Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features (2015)
- Authors:
- USP affiliated authors: MAGALHÃES, MONIZE LAZAR - IB ; ROCHA, KATIA MARIA DA - IB ; ZATZ, MAYANA - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; KIM, CHONG AE - FM
- Unidades: IB; FM
- DOI: 10.1002/ajmg.a.36789
- Subjects: GENÉTICA MÉDICA; DOENÇAS GENÉTICAS; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Medical Genetics
- Volume/Número/Paginação/Ano: p. on-line., 2015
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
CARVALHO, Ellaine; HONJO, Rachel; MAGALHÃES, Monize; et al. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, New York, p. on-line., 2015. Disponível em: < http://dx.doi.org/10.1002/ajmg.a.36789 > DOI: 10.1002/ajmg.a.36789. -
APA
Carvalho, E., Honjo, R., Magalhães, M., Yamamoto, G., Rocha, K., Naslavsky, M., et al. (2015). Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features. American Journal of Medical Genetics, on-line. doi:10.1002/ajmg.a.36789 -
NLM
Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.Available from: http://dx.doi.org/10.1002/ajmg.a.36789 -
Vancouver
Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C. Schinzel–Giedion syndrome in two Brazilian patients: report of a novel mutation in SETBP1 and literature review of the clinical features [Internet]. American Journal of Medical Genetics. 2015 ; on-line.Available from: http://dx.doi.org/10.1002/ajmg.a.36789 - Centro de Estudos do Genoma Humano: Seis anos de experiência no diagnóstico molecular da Síndrome de Rett
- Desvio de segregação em humanos
- Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: a new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?
- Exomic variants of an elderly cohort of Brazilians in the ABraOM database
- Molecular biology enhancing our understanding and improving the prevention of hereditary myopathies in the brazilian population
- Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 brazilian families
- Comparacao de 5 locos dinamicos em individuos caucasoides, negroides e orientais
- High proportion of new mutations and possible anticipation following molecular genetic studies in brazilian facioscapulohumeral muscular dystrophy (fshd) families
- High proportion of new mutations and possible anticipation in brazilian facioscapulohumeral muscular dystrophy families
- FGFR2 mutation confers a less drastic gain of function in mesenchymal stem cells than in fibroblasts
Informações sobre o DOI: 10.1002/ajmg.a.36789 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
