Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion (2012)
- Authors:
- USP affiliated authors: ALMEIDA, MARIA LEINE GUION DE - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidades: HRAC; IB
- DOI: 10.1002/ajmg.a.35351
- Subjects: AGENESIA; ANORMALIDADES CRANIOFACIAIS; LÁBIO FISSURADO
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Medical Genetics Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: v. 158A, n. 7, p. 1676-1679, July 2012
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
GUION-ALMEIDA, Maria Leine et al. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. American Journal of Medical Genetics Part A, v. 158A, n. 7, p. 1676-1679, 2012Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.35351. Acesso em: 12 fev. 2026. -
APA
Guion-Almeida, M. L., Richieri-Costa, A., Jehee, F. S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2012). Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion. American Journal of Medical Genetics Part A, 158A( 7), 1676-1679. doi:10.1002/ajmg.a.35351 -
NLM
Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1676-1679.[citado 2026 fev. 12 ] Available from: https://doi.org/10.1002/ajmg.a.35351 -
Vancouver
Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion [Internet]. American Journal of Medical Genetics Part A. 2012 ; 158A( 7): 1676-1679.[citado 2026 fev. 12 ] Available from: https://doi.org/10.1002/ajmg.a.35351 - Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
- Newly recognized autosomal recessive MCA/MR/overgrowth syndrome
- Severe midline craniofacial anomalies: overlap with Pai syndrome
- O serviço de genética clínica no HRAC/USP
- Oral teratoma, dextrocardia, and congenital heart defect: a nonrandom association or serendipity?
- Nonsyndromic alar clefts: report of five brazilian patients
- Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause
- Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family
- Pai syndrome: report of seven south american patients
- Conjoined twins: report of a Brazilian twin belonging to the category duplicatas incompleta, an atypical parasite twinning type
Informações sobre o DOI: 10.1002/ajmg.a.35351 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
