Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene (2005)
- Authors:
- USP affiliated authors: BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; ALMEIDA, MARIA LEINE GUION DE - HRAC
- Unidades: IB; HRAC
- Subjects: CROMOSSOMOS (ALTERAÇÃO); MALFORMAÇÕES; SÍNDROMES OROFACIODIGITAIS
- Language: Inglês
- Imprenta:
- Publisher place: Salt Lake City
- Date published: 2005
- Source:
- Título do periódico: Poster
- Conference titles: Annual Meeting of the American Society of Human Genetics
-
ABNT
PASSOS-BUENO, Maria Rita et al. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. 2005, Anais.. Salt Lake City: Instituto de Biociências, Universidade de São Paulo, 2005. . Acesso em: 19 abr. 2024. -
APA
Passos-Bueno, M. R., Poerner, F., Masotti, C., Oliveira, K., Zechi-Ceide, R. M., Guion-Almeida, M. L., et al. (2005). Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. In Poster. Salt Lake City: Instituto de Biociências, Universidade de São Paulo. -
NLM
Passos-Bueno MR, Poerner F, Masotti C, Oliveira K, Zechi-Ceide RM, Guion-Almeida ML, Splendore A, Freitas RS. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. Poster. 2005 ;[citado 2024 abr. 19 ] -
Vancouver
Passos-Bueno MR, Poerner F, Masotti C, Oliveira K, Zechi-Ceide RM, Guion-Almeida ML, Splendore A, Freitas RS. Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene. Poster. 2005 ;[citado 2024 abr. 19 ] - Mandibulofacial syndrome with growth amd mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?
- Mutations in the IRF6 gene in two patients with popliteal pterygium syndrome
- Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity
- Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation
- Holoprosencephaly , harmatomatous growth of the cerebrum dysplasic gangliocytoma of cerebellum, unique brain anomalies, and renal agenesis in a brazilian infant born to a diabetic mother: a clinical and pathological study
- Unusual phenotype in a female patient with a Gly25Ala substitution in the signal peptide region of the COL2A1 gene
- Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion
- Auriculo-condylar syndrome: confronting a diagnostic challenge
- CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients
- Acrocallosal syndrome: report of a Brazilian girl
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas