Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum (2018)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; KIM, CHONG AE - FM ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidades: IB; FM
- DOI: 10.1111/cge.13169
- Subjects: DISOSTOSE CRÂNIOFACIAL; MALFORMAÇÕES; MUTAÇÃO GENÉTICA; FENÓTIPOS; GENÓTIPOS; GENÉTICA MÉDICA
- Keywords: Acrofacial dysostosis; EIF4A3; Genotype; Phenotype; Richieri-Costa-Pereira syndrome
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Clinical Genetics
- ISSN: 1399-0004
- Volume/Número/Paginação/Ano: online, p. 1-12, Feb. 2018
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
BERTOLA, D R et al. Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum. Clinical Genetics, p. 1-12, 2018Tradução . . Disponível em: https://doi.org/10.1111/cge.13169. Acesso em: 24 abr. 2024. -
APA
Bertola, D. R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E. L., Yamamoto, G. L., et al. (2018). Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum. Clinical Genetics, 1-12. doi:10.1111/cge.13169 -
NLM
Bertola DR, Hsia G, Alvizi L, Gardham A, Wakeling EL, Yamamoto GL, Honjo RS, Oliveira LAN, Francesco RCD, Perez BA, Kim CA, Passos-Bueno MR. Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum [Internet]. Clinical Genetics. 2018 ; 1-12.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1111/cge.13169 -
Vancouver
Bertola DR, Hsia G, Alvizi L, Gardham A, Wakeling EL, Yamamoto GL, Honjo RS, Oliveira LAN, Francesco RCD, Perez BA, Kim CA, Passos-Bueno MR. Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum [Internet]. Clinical Genetics. 2018 ; 1-12.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1111/cge.13169 - Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
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Informações sobre o DOI: 10.1111/cge.13169 (Fonte: oaDOI API)
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