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Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus.
Balasundaram, Palanikumar; Avulakunta, Indirapriya Darshini; Delfiner, Leslie; Levy, Paul; Forman, Katie R.
Afiliação
  • Balasundaram P; Division of Neonatology, Jack D. Weiler Hospital, The Children's Hospital at Montefiore and Albert Einstein College of Medicine, Bronx, NY, USA.
  • Avulakunta ID; Division of Neonatology, Jack D. Weiler Hospital, The Children's Hospital at Montefiore and Albert Einstein College of Medicine, Bronx, NY, USA.
  • Delfiner L; Division of Neurology, The Children's Hospital at Montefiore and Albert Einstein College of Medicine, Bronx, NY, USA.
  • Levy P; Division of Medical Genetics, The Children's Hospital at Montefiore and Albert Einstein College of Medicine, Bronx, NY, USA.
  • Forman KR; Division of Neonatology, Jack D. Weiler Hospital, The Children's Hospital at Montefiore and Albert Einstein College of Medicine, Bronx, NY, USA.
Case Rep Genet ; 2023: 5535083, 2023.
Article em En | MEDLINE | ID: mdl-37497165

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2023 Tipo de documento: Article