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ArtikelInborn Errors of Development: Disruption of pathways Critical for Normal Development  
Oleh: Boris, Anthony Wynshaw
Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Pediatric Clinics of North America vol. 53 no. 05 (Oct. 2006), page 855.
Ketersediaan
  • Perpustakaan FK
    • Nomor Panggil: P13.K.2006.05
    • Non-tandon: 1 (dapat dipinjam: 0)
    • Tandon: tidak ada
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Isi artikelTraditionally, congnital birth defects have been classified descriptively based on the observed defects. As the genes important for some birth defects have been identified, it is clear that severalof the genes mutated in malformation syndromes or genes whose expression is disrupted by evvironmental agents or teratogens are part of conserved signal transduction pathways. One can consider malformations to be inborn errors of development whereby pathways important for controlling development throughout evolution have been dirupted. This article focuses on three highly conserved pathways and their interactions and provides a framework that allows pediatricians to relate the phenotype of humans who have developmental disorders to the functions of genes in a signal transduction pathway.
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