Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Napolitano, L. M. R."'
Autor:
Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., Savoia, A.
Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6fac6543e5394d63a8fd41d5941c99b2
Wiley Online Library
Wiley Online Library
Autor:
Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., Savoia, A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3710::ef5f3a547b3dbfa6aebdea59510ff963
http://hdl.handle.net/11567/1046964
http://hdl.handle.net/11567/1046964
Autor:
Paolo Gasparini, Roberta Bottega, Silvia Onesti, Enrico Cappelli, Anna Carbone, Flavio Faletra, Anna Savoia, Fabio Corsolini, Luisa M. R. Napolitano
Background: Warsaw Breakage Syndrome (WABS) is an ultra rare cohesinopathy caused by biallelic mutation of DDX11 gene. It is clinically characterized by pre and postnatal growth delay, microcephaly, hearing loss with cochlear hypoplasia, skin color a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9430448597687df70dc5999543c5b37e
http://hdl.handle.net/11368/2957690
http://hdl.handle.net/11368/2957690