Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins (2017)
- Authors:
- Jehee, Fernanda S
- Oliveira, Valdirene T. de
- Gurgel Giannetti, Juliana - Universidade Federal de Minas Gerais (UFMG)
- Pietra, Rafaella X
- Rubatino, Fernando V. M
- Carobin, Natália V
- Vianna, Gabrielle S
- Freitas, Mariana L. de
- Fernandes, Karla S
- Ribeiro, Beatriz S. V - Universidade Federal de Minas Gerais (UFMG)
- Brüggenwirth, Hennie T
- Ali-Amin, Roza
- White, Janson J
- Akdemir, Zeynep C
- Jhangiani, Shalini N
- Gibbs, Richard A
- Lupski, James R
- Varela, Monica C
- Koiffmann, Celia Priszkulnik
- Rosenberg, Carla
- Carvalho, Cláudia M. B
- USP affiliated authors: KOIFFMANN, CELIA PRISZKULNIK - IB ; ROSENBERG, CARLA - IB
- Unidade: IB
- DOI: 10.1002/ajmg.a.38315
- Subjects: DOENÇAS GENÉTICAS; GENÉTICA MÉDICA; DELEÇÃO DE GENES; FENÓTIPOS; OBESIDADE; RETARDO MENTAL
- Keywords: Atypical Prader–Willi Syndrome; Blended phenotype; Dual genetic diagnosis; Mosaicism; PTHS
- Language: Inglês
- Imprenta:
- Source:
- Título: American Journal of Medical Genetics. Part A
- ISSN: 1552-4833
- Volume/Número/Paginação/Ano: online, p. 1-5, June 2017
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: green
-
ABNT
JEHEE, Fernanda S et al. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A, p. 1-5, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38315. Acesso em: 27 dez. 2025. -
APA
Jehee, F. S., Oliveira, V. T. de, Gurgel Giannetti, J., Pietra, R. X., Rubatino, F. V. M., Carobin, N. V., et al. (2017). Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins. American Journal of Medical Genetics. Part A, 1-5. doi:10.1002/ajmg.a.38315 -
NLM
Jehee FS, Oliveira VT de, Gurgel Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, Freitas ML de, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann CP, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 1-5.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1002/ajmg.a.38315 -
Vancouver
Jehee FS, Oliveira VT de, Gurgel Giannetti J, Pietra RX, Rubatino FVM, Carobin NV, Vianna GS, Freitas ML de, Fernandes KS, Ribeiro BSV, Brüggenwirth HT, Ali-Amin R, White JJ, Akdemir ZC, Jhangiani SN, Gibbs RA, Lupski JR, Varela MC, Koiffmann CP, Rosenberg C, Carvalho CMB. Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twins [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 1-5.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1002/ajmg.a.38315 - Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency
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Informações sobre o DOI: 10.1002/ajmg.a.38315 (Fonte: oaDOI API)
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