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A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.
Quental, Rita; Sampaio, Mafalda; Alonso, Isabel; Quental, Sofia; Leão, Miguel; Sousa, Raquel.
Affiliation
  • Quental R; Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal.
  • Sampaio M; Department of Neuropediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal.
  • Alonso I; Genetyca-ICM, Instituto de Estudos Celulares e Moleculares, Porto, Portugal.
  • Quental S; IPATIMUP - Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
  • Leão M; Institute for Investigation and Innovation in Health (i3S), University of Porto, Porto, Portugal.
  • Sousa R; Department of Medical Genetics, Centro Hospitalar Universitário de São João, Porto, Portugal.
Neuropediatrics ; 54(2): 120-125, 2023 04.
Article in En | MEDLINE | ID: mdl-36652953
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Neuropediatrics Year: 2023 Document type: Article Affiliation country: Portugal Country of publication: Germany
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Neuropediatrics Year: 2023 Document type: Article Affiliation country: Portugal Country of publication: Germany