De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy (2022)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1136/jmedgenet-2020-107427
- Subjects: DOENÇAS DO SISTEMA NERVOSO; DOENÇAS DO SISTEMA NERVOSO PERIFÉRICO; MUTAÇÃO GENÉTICA
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of medical genetics
- ISSN: 0022-2593
- Volume/Número/Paginação/Ano: v. 59, n. 3, p. 305-312, 2022
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
RAGAMIN, Aviel et al. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy. Journal of medical genetics, v. 59, n. 3, p. 305-312, 2022Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2020-107427. Acesso em: 28 fev. 2026. -
APA
Ragamin, A., Gomes, C. C., Heus, K. B. -de, Sandoval, R., Bassenden, A. B., Dib, L., et al. (2022). De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy. Journal of medical genetics, 59( 3), 305-312. doi:10.1136/jmedgenet-2020-107427 -
NLM
Ragamin A, Gomes CC, Heus KB-de, Sandoval R, Bassenden AB, Dib L, Kok F, Alves J, Mathijssen I, Herik EM-van den. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy [Internet]. Journal of medical genetics. 2022 ; 59( 3): 305-312.[citado 2026 fev. 28 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107427 -
Vancouver
Ragamin A, Gomes CC, Heus KB-de, Sandoval R, Bassenden AB, Dib L, Kok F, Alves J, Mathijssen I, Herik EM-van den. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy [Internet]. Journal of medical genetics. 2022 ; 59( 3): 305-312.[citado 2026 fev. 28 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107427 - Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
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Informações sobre o DOI: 10.1136/jmedgenet-2020-107427 (Fonte: oaDOI API)
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