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? (2009)
- Authors:
- USP affiliated authors: ALMEIDA, MARIA LEINE GUION DE - HRAC ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB
- Unidades: HRAC; IB
- DOI: 10.1002/ajmg.a.32816
- Assunto: ANOMALIA CRANIOFACIAL
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Medical Genetics. Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: v. 149A, p. 2762-2764, 2009
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
GUION-ALMEIDA, Maria Leine et al. 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?. American Journal of Medical Genetics. Part A, v. 149A, p. 2762-2764, 2009Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.32816. Acesso em: 23 abr. 2024. -
APA
Guion-Almeida, M. L., Vendramini-Pittoli, S., Passos-Bueno, M. R., & Zechi-Ceide, R. M. (2009). 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? American Journal of Medical Genetics. Part A, 149A, 2762-2764. doi:10.1002/ajmg.a.32816 -
NLM
Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. 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? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32816 -
Vancouver
Guion-Almeida ML, Vendramini-Pittoli S, Passos-Bueno MR, Zechi-Ceide RM. 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? [Internet]. American Journal of Medical Genetics. Part A. 2009 ; 149A 2762-2764.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1002/ajmg.a.32816 - 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
- Auriculo-condylar syndrome: confirmation of wide intrafamilial clinical variability and mapping of the disease gene
- 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
Informações sobre o DOI: 10.1002/ajmg.a.32816 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas