Browsing by Author "Tenorio Castaño, Jair"

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  • A six-attribute classification of genetic mosaicism
    Martínez-Glez, Víctor; Tenorio Castaño, Jair; Nevado, Julián; Gordo, Gema; Rodríguez-Laguna, Lara; Feito, Marta; Lucas, Raúl de; Pérez Jurado, Luis Alberto; Ruiz Pérez, Víctor L.; Torrelo, Antonio; Spinner, Nancy B.; Happle, Rudolf; Biesecker, Leslie G.; Lapunzina, Pablo Daniel (Nature Research, 2020)
    Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural ...
  • Schuurs-Hoeijmakers syndrome (PACS1 neurodevelopmental disorder): seven novel patients and a review
    Tenorio Castaño, Jair; Pérez Jurado, Luis Alberto; Lapunzina, Pablo Daniel (MDPI, 2021)
    Schuurs-Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant ...