Artigo de periodico

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 - 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: 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:
  • Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
    Processo FAPESP: 2019/06039-2
  • Financiamento CNPq
• Language: Inglês
• Imprenta:
  • Publisher place: London
  • Date published: 2023
• Source:
  • Título do periódico: Journal of Medical Genetics
  • ISSN: 1468-6244
  • Volume/Número/Paginação/Ano: on-line, 2023

Informações sobre o DOI: 10.1136/jmg-2022-109119 (Fonte: oaDOI API)
• Este periódico é de assinatura
• Este artigo NÃO é de acesso aberto
  
• Cor do Acesso Aberto: closed

---

Download do texto completo

Tipo	Nome	Link
	3140037.pdf	Direct link

How to cite

A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas

• 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: 23 maio 2024.

• 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 2024 maio 23 ] 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 2024 maio 23 ] Available from: https://doi.org/10.1136/jmg-2022-109119

Últimas obras dos mesmos autores vinculados com a USP cadastradas na BDPI:

• Rothmund-Thomson syndrome, a disorder far from solved
• Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta]
• Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
• Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
• Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum
• Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia
• Displasias esqueléticas
• Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
• New insight in mucopolysaccharidosis type VI: Neurological perspective
• Mucopolysaccharidosis Type IVA: Evidence of Primary and Secondary Central Nervous System Involvement