Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta] (2015)
- Authors:
- USP affiliated authors: BERTOLA, DÉBORA ROMEO - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; KIM, CHONG AE - FM
- Unidades: IB; FM
- DOI: 10.1002/ajmg.a.36981
- Subjects: MUTAÇÃO GENÉTICA; FENÓTIPOS; PROTEÍNAS; CROMOSSOMO X; PERDA AUDITIVA; ANORMALIDADES CRANIOFACIAIS; OSSOS FACIAIS; FISSURA PALATINA; DOENÇAS GENÉTICAS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: AMERICAN JOURNAL OF MEDICAL GENETICS Part A
- ISSN: 1552-4825
- Volume/Número/Paginação/Ano: online, p. 1-4, Mar. 2015
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
BERTOLA, Débora Romeo et al. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta]. AMERICAN JOURNAL OF MEDICAL GENETICS Part A. Hoboken: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1002/ajmg.a.36981. Acesso em: 18 abr. 2024. , 2015 -
APA
Bertola, D. R., Passos-Bueno, M. R., Pereira, A., Kim, C. A., Morgan, T., & Robertson, S. P. (2015). Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta]. AMERICAN JOURNAL OF MEDICAL GENETICS Part A. Hoboken: Instituto de Biociências, Universidade de São Paulo. doi:10.1002/ajmg.a.36981 -
NLM
Bertola DR, Passos-Bueno MR, Pereira A, Kim CA, Morgan T, Robertson SP. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta] [Internet]. AMERICAN JOURNAL OF MEDICAL GENETICS Part A. 2015 ; 1-4.[citado 2024 abr. 18 ] Available from: https://doi.org/10.1002/ajmg.a.36981 -
Vancouver
Bertola DR, Passos-Bueno MR, Pereira A, Kim CA, Morgan T, Robertson SP. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: insights into genotype–phenotype correlation [Carta] [Internet]. AMERICAN JOURNAL OF MEDICAL GENETICS Part A. 2015 ; 1-4.[citado 2024 abr. 18 ] Available from: https://doi.org/10.1002/ajmg.a.36981 - Richieri-Costa-Pereira syndrome: expanding its phenotypicand genotypic spectrum
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Informações sobre o DOI: 10.1002/ajmg.a.36981 (Fonte: oaDOI API)
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