A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review (2021)
- Authors:
- USP affiliated authors: KREPISCHI, ANA CRISTINA VICTORINO - IB ; KOIFFMANN, CELIA PRISZKULNIK - IB ; ROSENBERG, CARLA - IB ; CARVALHO, LAURA MACHADO LARA - IB
- Unidade: IB
- Subjects: GENÉTICA MÉDICA; OBESIDADE; RETARDO MENTAL; MUTAÇÃO GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Obesity Research & Clinical Practice
- ISSN: 1878-0318
- Volume/Número/Paginação/Ano: v. 15, n. 2, Mar./Apr. p. 124-132, 2021
-
ABNT
CARVALHO, Laura M. L et al. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review. Obesity Research & Clinical Practice, v. 15, n. 2, p. Mar./Apr. 124-132, 2021Tradução . . Disponível em: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf. Acesso em: 28 dez. 2025. -
APA
Carvalho, L. M. L., D’Angelo, C. S., Mustacchi, Z., Silva, I. T. da, Krepischi, A. C. V., Koiffmann, C. P., & Rosenberg, C. (2021). A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review. Obesity Research & Clinical Practice, 15( 2), Mar./Apr. 124-132. Recuperado de https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf -
NLM
Carvalho LML, D’Angelo CS, Mustacchi Z, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review [Internet]. Obesity Research & Clinical Practice. 2021 ; 15( 2): Mar./Apr. 124-132.[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf -
Vancouver
Carvalho LML, D’Angelo CS, Mustacchi Z, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review [Internet]. Obesity Research & Clinical Practice. 2021 ; 15( 2): Mar./Apr. 124-132.[citado 2025 dez. 28 ] Available from: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf - Two novel pathogenic variants in MED13L: one familial and one isolated case
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