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pro vyhledávání: '"Vile Makela"'
Autor:
Natalie J. Prescott, Elizabeth Bentley, Paul Rutland, Brandon J. Wainwright, John Nelson, Bronwyn Kerr, Susan M. Darling, Vile Makela, Robert F. Mueller, Shalini Jadeja, Christine Francannet, Lesley M McGregor, Antonio Perez-Aytes, Emma Roberts, André Mégarbané, Jason Hopkins, Sofia Vrontou, Adrian S. Woolf, Alison Shaw, Nicole Philip, Nicola Smart, Robin M. Winter, Georges Chalepakis, Peter J. Scambler, Catherine Roberts
Fraser syndrome (OMIM 219000) is a multisystem malformation usually comprising cryptophthalmos, syndactyly and renal defects(1). Here we report autozygosity mapping and show that the locus FS1 at chromosome 4q21 is associated with Fraser syndrome, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833c0b6f42fd08a3c2eba17bfad55cf0
https://ora.ox.ac.uk/objects/uuid:eb05386f-688d-4290-b079-8a0fb29df60f
https://ora.ox.ac.uk/objects/uuid:eb05386f-688d-4290-b079-8a0fb29df60f
