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pro vyhledávání: '"Noe Diaz-Gomez"'
Autor:
Angélica Martínez-Hernández, Roberto Mar-Aldama, Ramón Salgado-Sangri, Emilio J. Cordova, Lorena Orozco, Tulia Monge-Cazares, Luis Bonilla-Arcaute, Noe Diaz-Gomez, Roberto Guevara-Yañez, Oliver De la Torre-García, Juan Diaz-Ponce-Medrano
Publikováno v:
European journal of medical genetics. 62(3)
Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by random chromosome gains and losses. Mutations in BUB1B and CEP57 genes have been involved in MVA. Here we report on a male child with MVA due to c.915
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfdef33eb292f0d073286444cea2cc97
https://pubmed.ncbi.nlm.nih.gov/30010053
https://pubmed.ncbi.nlm.nih.gov/30010053
