Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay (2021)
- Authors:
- Melo, Uirá Souto
- Bonner, Devon
- Lloyd, Kevin C. Kent
- Moshiri, Ala
- Willis, Brandon
- Lanoue, Louise
- Bower, Lynette
- Leonard, Brian C.
- Martins, Davi Jardim
- Gomes, Fernando
- Leite, Felipe de Souza
- Oliveira, Danyllo
- Kitajima, João Paulo
- Monteiro, Fabiola P.
- Zatz, Mayana
- Menck, Carlos Frederico Martins
- Wheeler, Matthew T.
- Bernstein, Jonathan A.
- Dumas, Kevin
- Spiteri, Elizabeth
- Di Donato, Nataliya
- Jahn, Arne
- Hashem, Mais
- Alsaif, Hessa S.
- Chedrawi, Aziza
- Alkuraya, Fowzan S.
- Kok, Fernando
- Byers, Heather M.
- Melo, Uirá Souto
- USP affiliated authors: ZATZ, MAYANA - IB ; MENCK, CARLOS FREDERICO MARTINS - ICB ; KOK, FERNANDO - FM ; MELO, UIRÁ SOUTO - IB ; MARTINS, DAVI JARDIM - ICB ; GOMES, FERNANDO - IB ; LEITE, FELIPE DE SOUZA - IB ; OLIVEIRA, DANYLLO FELIPE DE - IB
- Unidades: IB; ICB; FM
- DOI: 10.1038/s41436-020-01047-z
- Subjects: MICROBIOLOGIA; EXONS; GENOMAS; PESSOAS COM DEFICIÊNCIA INTELECTUAL; DOENÇAS DO DESENVOLVIMENTO ÓSSEO; VARIAÇÃO GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2021
- Source:
- Título: Genetics in Medicine
- ISSN: 1530-0366
- Volume/Número/Paginação/Ano: v. 23, n. 4, p. 6611-668, 2021
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
MELO, Uirá Souto et al. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genetics in Medicine, v. 23, n. 4, p. 6611-668, 2021Tradução . . Disponível em: https://doi.org/10.1038/s41436-020-01047-z. Acesso em: 11 fev. 2026. -
APA
Melo, U. S., Bonner, D., Lloyd, K. C. K., Moshiri, A., Willis, B., Lanoue, L., et al. (2021). Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genetics in Medicine, 23( 4), 6611-668. doi:10.1038/s41436-020-01047-z -
NLM
Melo US, Bonner D, Lloyd KCK, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, Leite F de S, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay [Internet]. Genetics in Medicine. 2021 ; 23( 4): 6611-668.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1038/s41436-020-01047-z -
Vancouver
Melo US, Bonner D, Lloyd KCK, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, Leite F de S, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay [Internet]. Genetics in Medicine. 2021 ; 23( 4): 6611-668.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1038/s41436-020-01047-z - A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
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- Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
- Estudo epidemiológico e genético da surdez em dois municípios do estado da Paraíba, Brasil
Informações sobre o DOI: 10.1038/s41436-020-01047-z (Fonte: oaDOI API)
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