Artigo de periodico

A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia (2013)

• Authors:
  • Zechi-Ceide, Roseli Maria
  • Moura, Priscila Padilha
  • Raskin, Salmo
  • Richieri-Costa, Antonio
  • Guion-Almeida, Maria Leine
• USP affiliated authors: CEIDE, ROSELI MARIA ZECHI - HRAC ; COSTA, ANTONIO RICHIERI DA - HRAC ; ALMEIDA, MARIA LEINE GUION DE - HRAC ; MOURA, PRISCILA PADILHA - HRAC
• Unidade: HRAC
• DOI: 10.1002/ajmg.a.36057
• Subjects: SÍNDROME DE PIERRE ROBIN; MUTAÇÃO; ANORMALIDADES MÚLTIPLAS
• Language: Inglês
• Imprenta:
  • Publisher place: Hoboken
  • Date published: 2013
• Source:
  • Título: American Journal of Medical Genetics. Part A
  • ISSN: 1552-4825
  • Volume/Número/Paginação/Ano: v. 161, n. 8, p. 2088-2094, Aug. 2013

Informações sobre o DOI: 10.1002/ajmg.a.36057 (Fonte: oaDOI API)
• Este periódico é de assinatura
• Este artigo NÃO é de acesso aberto
  
• Cor do Acesso Aberto: closed

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• ABNT

  ZECHI-CEIDE, Roseli Maria et al. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. American Journal of Medical Genetics. Part A, v. 161, n. 8, p. 2088-2094, 2013Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.36057. Acesso em: 27 dez. 2025.

• APA

  Zechi-Ceide, R. M., Moura, P. P., Raskin, S., Richieri-Costa, A., & Guion-Almeida, M. L. (2013). A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. American Journal of Medical Genetics. Part A, 161( 8), 2088-2094. doi:10.1002/ajmg.a.36057

• NLM

  Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 8): 2088-2094.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1002/ajmg.a.36057

• Vancouver

  Zechi-Ceide RM, Moura PP, Raskin S, Richieri-Costa A, Guion-Almeida ML. A compound heterozygote SLC26A2 mutation resulting in Robin Sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters: a new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia [Internet]. American Journal of Medical Genetics. Part A. 2013 ; 161( 8): 2088-2094.[citado 2025 dez. 27 ] Available from: https://doi.org/10.1002/ajmg.a.36057

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