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The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development

Menzel, Olivier ; Vellai, Tibor ; Takacs-Vellai, Krisztina ; Reymond, Alexandre ; Müller, Fritz ; Antonarakis, Stylianos E. ; Guipponi, Michel

In: Genomics, 2004, vol. 84, p. 320-330

Down syndrome (DS), as a phenotypic result of trisomy 21, is the most frequent aneuploidy at birth and the most common known genetic cause of mental retardation. DS is also characterized by other phenotypes affecting many organs, including brain, muscle, heart, limbs, gastrointestinal tract, skeleton, and blood. Any of the human chromosome 21 (Hsa21) genes may contribute to some of the DS...