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Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Parra, Alejandro; Pascual, Patricia; Cazalla, Mario; Arias, Pedro; Gallego-Zazo, Natalia; San-Martín, Esteban A; Silván, Cristina; Santos-Simarro, Fernando; Nevado, Julián; Tenorio-Castano, Jair; Lapunzina, Pablo.
Affiliation
  • Parra A; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Pascual P; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
  • Cazalla M; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain.
  • Arias P; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Gallego-Zazo N; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
  • San-Martín EA; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain.
  • Silván C; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Santos-Simarro F; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
  • Nevado J; Group U753, CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
  • Tenorio-Castano J; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Madrid, Spain.
  • Lapunzina P; ITHACA, European Reference Network, Hospital Universitario La Paz, Madrid, Spain.
Clin Genet ; 105(2): 140-149, 2024 02.
Article in En | MEDLINE | ID: mdl-37904618
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Neurodevelopmental Disorders / Intellectual Disability / Nervous System Malformations Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2024 Type: Article Affiliation country: Spain
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Neurodevelopmental Disorders / Intellectual Disability / Nervous System Malformations Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2024 Type: Article Affiliation country: Spain