Cognitive performance in six Brazilian male with Opitz GBBB Syndrome and pathogenic variation in the MID1 gene (2023)
- Authors:
- USP affiliated authors: NAKATA, NANCY MIZUE KOKITSU - HRAC ; MIOTTO, ELIANE CORREA - FM ; CEIDE, ROSELI MARIA ZECHI - HRAC
- Unidades: HRAC; FM
- Subjects: ANORMALIDADES CRANIOFACIAIS; FISSURA LÁBIOPALATINA; AVALIAÇÃO DA APRENDIZAGEM; GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo
- Publisher place: Bauru
- Date published: 2023
- Source:
- Título: Anais
- Conference titles: Simpósio Internacional de Fissuras Orofaciais e Anomalias Relacionadas
-
ABNT
RAFACHO, Marina Bigeli et al. Cognitive performance in six Brazilian male with Opitz GBBB Syndrome and pathogenic variation in the MID1 gene. 2023, Anais.. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, 2023. Disponível em: https://repositorio.usp.br/directbitstream/836f25cb-46e1-424b-a2a3-14f5426b87ce/3227317.pdf. Acesso em: 28 dez. 2025. -
APA
Rafacho, M. B., Siemann, M. E., Serrão, V. T., Nakata, N. M. K., Guion-Almeida, M. L., Miotto, E. C., & Zechi-Ceide, R. M. (2023). Cognitive performance in six Brazilian male with Opitz GBBB Syndrome and pathogenic variation in the MID1 gene. In Anais. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/836f25cb-46e1-424b-a2a3-14f5426b87ce/3227317.pdf -
NLM
Rafacho MB, Siemann ME, Serrão VT, Nakata NMK, Guion-Almeida ML, Miotto EC, Zechi-Ceide RM. Cognitive performance in six Brazilian male with Opitz GBBB Syndrome and pathogenic variation in the MID1 gene [Internet]. Anais. 2023 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/836f25cb-46e1-424b-a2a3-14f5426b87ce/3227317.pdf -
Vancouver
Rafacho MB, Siemann ME, Serrão VT, Nakata NMK, Guion-Almeida ML, Miotto EC, Zechi-Ceide RM. Cognitive performance in six Brazilian male with Opitz GBBB Syndrome and pathogenic variation in the MID1 gene [Internet]. Anais. 2023 ;[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/836f25cb-46e1-424b-a2a3-14f5426b87ce/3227317.pdf - Baraitser-Winter cerebrofrontofacial syndrome: an additional Brazilian case report
- A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
- 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
- A novel missense variant p.Ser118Arg in EFNB1 causing ocular hypertelorism and cleft lip and palate in a boy and craniofrontonasal syndrome phenotype in his mother
- O serviço de genética clínica no HRAC/USP
- Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears
- Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
- Monodactyly in a patient with CHARGE syndrome: an additional case report
- Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Download do texto completo
| Tipo | Nome | Link | |
|---|---|---|---|
| 3227317.pdf |
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
