Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 (2012)
- Autores:
- Autores USP: CEIDE, ROSELI MARIA ZECHI - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; ALMEIDA, MARIA LEINE GUION DE - HRAC
- Unidades: HRAC; IB
- DOI: 10.1002/ajmg.a.35367
- Assuntos: CROMOSSOMOS; GENÉTICA MÉDICA; GENES
- Idioma: Inglês
- Imprenta:
- Fonte:
- Título do periódico: American Journal of Medical Genetics Part A
- ISSN: 1552-4833
- Volume/Número/Paginação/Ano: v. 158A, n. 7, p. 1680\20131685, Jul. 2012
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
ZECHI-CEIDE, Roseli Maria et al. Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7. American Journal of Medical Genetics Part A, v. 158A, n. 7, p. 1680\20131685, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35367. Acesso em: 24 abr. 2024. -
APA
Zechi-Ceide, R. M., Rodrigues, M. G., Jehee, F. S., Nakata, N. M. K., Passos-Bueno, M. R., & Guion Almeida, M. L. (2012). Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7. American Journal of Medical Genetics Part A, 158A( 7), 1680\20131685. doi:10.1002/ajmg.a.35367 -
NLM
Zechi-Ceide RM, Rodrigues MG, Jehee FS, Nakata NMK, Passos-Bueno MR, Guion Almeida ML. Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1680\20131685.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/ajmg.a.35367 -
Vancouver
Zechi-Ceide RM, Rodrigues MG, Jehee FS, Nakata NMK, Passos-Bueno MR, Guion Almeida ML. Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1680\20131685.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1002/ajmg.a.35367 - Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome
- Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding
- Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
- O serviço de genética clínica no HRAC/USP
- Clinical genetic diagnostic and follow up of patients with Robin Sequence: an 13 years of experience at HRAC-USP
- O serviço de genética clínica no HRAC-USP
- Mutação no gene EFTUD2 em um caso familial com disostose mandibulofacial tipo Guion-Almeida
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
- O serviço de genética no HRAC-USP
Informações sobre o DOI: 10.1002/ajmg.a.35367 (Fonte: oaDOI API)
Como citar
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
