Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms (2021)
- Authors:
- USP affiliated authors: ROSENBERG, CARLA - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; KIM, CHONG AE - FM ; BERTOLA, DÉBORA ROMEO - IB ; ROCHA, LETÍCIA ALVES DA - FM ; YAMAMOTO, GUILHERME LOPES - FM ; FRANÇA BISNETO, EDGARD DE NOVAES - FM ; OLIVEIRA, LUIZ ANTONIO NUNES DE - FM
- Unidades: IB; FM
- DOI: 10.1111/cge.14041
- Subjects: GENÉTICA MÉDICA; DOENÇAS CONGÊNITAS; DOENÇAS GENÉTICAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Clinical Genetics
- ISSN: 1399-0004
- Volume/Número/Paginação/Ano: v. 100, n. 5, p. 615-623, 2021
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
ROCHA, Letícia Alves da et al. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, v. 100, n. 5, p. 615-623, 2021Tradução . . Disponível em: https://doi.org/10.1111/cge.14041. Acesso em: 04 jun. 2024. -
APA
Rocha, L. A. da, Pires, L. V. L., Yamamoto, G. L., Ceroni, J. R. M., Honjo, R. S., França Bisneto, E. de N., et al. (2021). Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, 100( 5), 615-623. doi:10.1111/cge.14041 -
NLM
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1111/cge.14041 -
Vancouver
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1111/cge.14041 - Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil
- Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum
- Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?
- Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta]
- Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
- A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate
- 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
Informações sobre o DOI: 10.1111/cge.14041 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
