PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI (2006)
- Authors:
- Autor USP: COSTA, ANTONIO RICHIERI DA - HRAC
- Unidade: HRAC
- DOI: 10.1002/ajmg.a.31369
- Subjects: FISSURA LÁBIOPALATINA; ANORMALIDADES MÚLTIPLAS; HOLOPROSENCEFALIA; MUTAÇÃO; FENÓTIPOS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: American Journal of Medical Genetics Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: v. 140A, n. 23, p. 2584-2586, Dec. 2006
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
RIBEIRO, Lucilene Arilho e MURRAY, Jeffrey C. e RICHIERI-COSTA, Antonio. PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. American Journal of Medical Genetics Part A, v. 140A, n. 23, p. 2584-2586, 2006Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.31369. Acesso em: 18 abr. 2024. -
APA
Ribeiro, L. A., Murray, J. C., & Richieri-Costa, A. (2006). PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. American Journal of Medical Genetics Part A, 140A( 23), 2584-2586. doi:10.1002/ajmg.a.31369 -
NLM
Ribeiro LA, Murray JC, Richieri-Costa A. PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2584-2586.[citado 2024 abr. 18 ] Available from: https://doi.org/10.1002/ajmg.a.31369 -
Vancouver
Ribeiro LA, Murray JC, Richieri-Costa A. PTCH mutations in four brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI [Internet]. American Journal of Medical Genetics Part A. 2006 ; 140A( 23): 2584-2586.[citado 2024 abr. 18 ] Available from: https://doi.org/10.1002/ajmg.a.31369 - Branchio-oto-renal (BOR) syndrome: report of a brazilian family
- Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients
- Genotype-phenotype correlation in two patients with familiar Pfeiffer syndrome
- A década da linguagem - os genes começam a falar
- Macrostomia, preauricular tags, and external ophthalmoplegia: a new autosomal dominant syndrome within the oculoauriculovertebral spectrum?
- Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity
- Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and cleft lip and palate. Report of two Brazilian families
- A study of familial stuttering
- SIX3 mutations with holoprosencephaly
- Autosomal recessive blepharoptosis, cleft lip/palate, dental anomalies, and ectrodactyly
Informações sobre o DOI: 10.1002/ajmg.a.31369 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
