Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations (2020)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1016/j.ejmg.2019.01.014
- Subjects: ANORMALIDADES DO SISTEMA NERVOSO; ANORMALIDADES MUSCULOSQUELÉTICAS; ADENOSINA TRIFOSFATO; ERITROBLASTOSE FETAL; MICROCEFALIA; CÓRTEX CEREBRAL
- Language: Inglês
- Imprenta:
- Source:
- Título: European journal of medical genetics
- ISSN: 1769-7212
- Volume/Número/Paginação/Ano: v. 63, n. 1, article ID 103624, 8p, 2020
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
MONTEIRO, Fabiola P et al. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. European journal of medical genetics, v. 63, n. 1, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2019.01.014. Acesso em: 24 fev. 2026. -
APA
Monteiro, F. P., Curry, C. J., Hevner, R., Elliott, S., Fisher, J. H., Turocy, J., et al. (2020). Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. European journal of medical genetics, 63( 1). doi:10.1016/j.ejmg.2019.01.014 -
NLM
Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations [Internet]. European journal of medical genetics. 2020 ; 63( 1):[citado 2026 fev. 24 ] Available from: https://doi.org/10.1016/j.ejmg.2019.01.014 -
Vancouver
Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations [Internet]. European journal of medical genetics. 2020 ; 63( 1):[citado 2026 fev. 24 ] Available from: https://doi.org/10.1016/j.ejmg.2019.01.014 - Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
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Informações sobre o DOI: 10.1016/j.ejmg.2019.01.014 (Fonte: oaDOI API)
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