Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Bottega, Roberta; Napolitano, Luisa M R; Carbone, Anna; Cappelli, Enrico; Corsolini, Fabio; Onesti, Silvia; Savoia, Anna; Gasparini, Paolo; Faletra, Flavio

Bottega, Roberta; Napolitano, Luisa M R; Carbone, Anna; Cappelli, Enrico; Corsolini, Fabio; Onesti, Silvia; Savoia, Anna; Gasparini, Paolo; Faletra, Flavio.

Affiliation

Bottega R; Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Napolitano LMR; Structural Biology Laboratory, Elettra-Sincrotrone Trieste S.C.p.A., Trieste, Italy.
Carbone A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.
Cappelli E; Clinical and Experimental Hematology Unit, "G. Gaslini" Children's Hospital, Genoa, Italy.
Corsolini F; U.O.S.D. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, "G. Gaslini" Children's Hospital, Genoa, Italy.
Onesti S; Structural Biology Laboratory, Elettra-Sincrotrone Trieste S.C.p.A., Trieste, Italy.
Savoia A; Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Gasparini P; Department of Medical Science, University of Trieste, Trieste, Italy.
Faletra F; Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

Mol Genet Genomic Med ; 7(5): e639, 2019 05.

Article de En | MEDLINE | ID: mdl-30924321

Sujet(s)
Mots clés

DDX11; Warsaw Breakage Syndrome; mutations

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Malformations multiples / Helicase / Taches café-au-lait / DEAD-box RNA helicases / Surdité neurosensorielle Type d'étude: Prognostic_studies Limites: Child / Child, preschool / Female / Humans Langue: En Journal: Mol Genet Genomic Med Année: 2019 Type de document: Article Pays d'affiliation: Italie

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