Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome (2023)
- Authors:
- Lazzaro Filho, Ricardo Di
- Yamamoto, Guilherme Lopes
- Silva, Tiago J
- Rocha, Leticia A
- Linnenkamp, Bianca D. W
- Castro, Matheus Augusto Araújo
- Bartholdi, Deborah
- Schaller, André
- Leeb, Tosso
- Kelmann, Samantha
- Utagawa, Claudia Y
- Steiner, Carlos E
- Steinmetz, Leandra
- Honjo, Rachel Sayuri
- Kim, Chong Ae
- Wang, Lisa
- Abourjaili-Bilodeau, Raphaël
- Campeau, Philippe M
- Warma, Matthew
- Passos-Bueno, Maria Rita
- Hoch, Nicolas Carlos
- Bertola, Débora Romeo
- USP affiliated authors: YAMAMOTO, GUILHERME LOPES - Interunidades em Bioinformática ; KIM, CHONG AE - FM ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; HOCH, NICOLAS CARLOS - IQ ; BERTOLA, DÉBORA ROMEO - IB ; LAZZARO FILHO, RICARDO DI - IB ; SILVA, TIAGO JOSÉ DA - IQ ; ROCHA, LETÍCIA ALVES DA - IB ; KELMANN, SAMANTHA VERNASCHI - FM ; STEINMETZ, LEANDRA - FM
- Unidades: Interunidades em Bioinformática; FM; IB; IQ
- DOI: 10.1136/jmg-2022-109119
- Subjects: GENÉTICA MÉDICA; ANÁLISE DE SEQUÊNCIA DE DNA; DOENÇAS GENÉTICAS; MUTAÇÃO GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Journal of Medical Genetics
- ISSN: 1468-6244
- Volume/Número/Paginação/Ano: on-line, 2023
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
LAZZARO FILHO, Ricardo Di et al. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics, 2023Tradução . . Disponível em: https://doi.org/10.1136/jmg-2022-109119. Acesso em: 17 fev. 2026. -
APA
Lazzaro Filho, R. D., Yamamoto, G. L., Silva, T. J., Rocha, L. A., Linnenkamp, B. D. W., Castro, M. A. A., et al. (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics. doi:10.1136/jmg-2022-109119 -
NLM
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2026 fev. 17 ] Available from: https://doi.org/10.1136/jmg-2022-109119 -
Vancouver
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2026 fev. 17 ] Available from: https://doi.org/10.1136/jmg-2022-109119 - Rothmund-Thomson syndrome, a disorder far from solved
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Informações sobre o DOI: 10.1136/jmg-2022-109119 (Fonte: oaDOI API)
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