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Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Selicorni, A; Russo, S; Gervasini, C; Castronovo, P; Milani, D; Cavalleri, F; Bentivegna, A; Masciadri, M; Domi, A; Divizia, M T; Sforzini, C; Tarantino, E; Memo, L; Scarano, G; Larizza, L.
Affiliation
  • Selicorni A; I Clinica Pediatrica, Fondazione Policlinico Mangiagalli Regina Elena, Milan, Italy.
Clin Genet ; 72(2): 98-108, 2007 Aug.
Article in En | MEDLINE | ID: mdl-17661813
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Collection: 01-internacional Database: MEDLINE Main subject: Proteins / De Lange Syndrome / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Clin Genet Year: 2007 Document type: Article Affiliation country: Italia
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Collection: 01-internacional Database: MEDLINE Main subject: Proteins / De Lange Syndrome / Mutation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Clin Genet Year: 2007 Document type: Article Affiliation country: Italia