Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings (2017)
- Authors:
- USP affiliated authors: COSTA, ANTONIO RICHIERI DA - HRAC ; PITTOLI, SIULAN VENDRAMINI PAULOVICH - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; CEIDE, ROSELI MARIA ZECHI - HRAC ; ALVAREZ, CAMILA WENCESLAU - HRAC
- Unidade: HRAC
- DOI: 10.1055/s-0036-1588028
- Subjects: HOLOPROSENCEFALIA; MUTAÇÃO GENÉTICA; FENÓTIPOS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Journal of Pediatric Genetics
- Volume/Número/Paginação/Ano: v. 6, n. 2, p. 103-106, June 2017
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
-
ABNT
RICHIERI-COSTA, Antonio et al. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings. Journal of Pediatric Genetics, v. 6, n. 2, p. 103-106, 2017Tradução . . Disponível em: https://doi.org/10.1055/s-0036-1588028. Acesso em: 27 abr. 2024. -
APA
Richieri-Costa, A., Pittoli, S. V. P., Nakata, N. M. K., Ceide, R. M. Z., Alvarez, C. W., & Bicudo, L. A. R. (2017). Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings. Journal of Pediatric Genetics, 6( 2), 103-106. doi:10.1055/s-0036-1588028 -
NLM
Richieri-Costa A, Pittoli SVP, Nakata NMK, Ceide RMZ, Alvarez CW, Bicudo LAR. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings [Internet]. Journal of Pediatric Genetics. 2017 ; 6( 2): 103-106.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1055/s-0036-1588028 -
Vancouver
Richieri-Costa A, Pittoli SVP, Nakata NMK, Ceide RMZ, Alvarez CW, Bicudo LAR. Multisystem involvement in a patient with a PTCH1 mutation: clinical and imaging findings [Internet]. Journal of Pediatric Genetics. 2017 ; 6( 2): 103-106.[citado 2024 abr. 27 ] Available from: https://doi.org/10.1055/s-0036-1588028 - Síndrome OPITZ G/BBB em mulheres: quão leve é o fenótipo?
- Genética clínica no HRAC-USP
- Atypical phenotype of Opitz GBBB syndrome caused by a novel mid1 variation
- Unique phenotype in a Brazilian girl with syndromic Robin sequence and a 5.6 mb deletion in xp11.4p11.3
- Opitz G/BBB syndrome: clinical, imaging, and molecular findings in 15 brazilian patients
- Phenotypic evolution in Optiz GBBB Syndrome: clues for diagnosis and prognosis
- Radiological and CT scan evaluation of mandible and ear in 56 cases with oculoaurivulovertebral spectrum
- Phenotypic evaluation and evolution in syndromic (SC) and non-syndromic craniosynostosis (NSC): a retrospective study in 180 patients
- Genética clínica
- A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
Informações sobre o DOI: 10.1055/s-0036-1588028 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
