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Data de Notificação: 04/04/2025
Editora: Springer
Revista: Human Genetics
Link: https://link.springer.com/journal/439/updates/18942626
Detalhes:
Early onset IBD and diarrheal disorders comprise a rare group of monogenic disorders with early childhood onset. To date, nearly 100 genes have been associated with IBD-like and other gastrointestinal manifestations, leading to syndromes such as immunodeficiencies, inflammatory disorders, epithelial-barrier dysfunction defects and others. Advances in sequencing technologies and biological platforms continuously contribute to our understanding of the molecular genetics and pathophysiology underly...