Basit öğe kaydını göster

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

dc.contributor.authorCrosier, M.
dc.contributor.authorKayserili, H.
dc.contributor.authorSchnur, R. E.
dc.contributor.authorManouvrier, S.
dc.contributor.authorBlair, E.
dc.contributor.authorHurst, J. A.
dc.contributor.authorForzano, F.
dc.contributor.authorMeins, M.
dc.contributor.authorSimola, K. O. J.
dc.contributor.authorRaas-Rothschild, A.
dc.contributor.authorHennekam, R. C. M.
dc.contributor.authorJabs, E. Wang
dc.contributor.authorVega, H.
dc.contributor.authorTrainer, A. H.
dc.contributor.authorGordillo, M.
dc.contributor.authorSkovby, F.
dc.contributor.authorUzielli, M. L. Giovannucci
dc.date.accessioned2021-03-06T09:18:12Z
dc.date.available2021-03-06T09:18:12Z
dc.date.issued2010
dc.identifier.citationVega H., Trainer A. H. , Gordillo M., Crosier M., Kayserili H., Skovby F., Uzielli M. L. G. , Schnur R. E. , Manouvrier S., Blair E., et al., "Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome", JOURNAL OF MEDICAL GENETICS, cilt.47, ss.30-37, 2010
dc.identifier.issn0022-2593
dc.identifier.otherav_e4f936d9-16c3-49df-8b32-7b8e8fc5a8c8
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/150653
dc.identifier.urihttps://doi.org/10.1136/jmg.2009.068395
dc.description.abstractBackground Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be truncating mutations. Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available.
dc.language.isoeng
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.titlePhenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
dc.typeMakale
dc.relation.journalJOURNAL OF MEDICAL GENETICS
dc.contributor.departmentCity University of New York (CUNY) System , ,
dc.identifier.volume47
dc.identifier.issue1
dc.identifier.startpage30
dc.identifier.endpage37
dc.contributor.firstauthorID194956


Bu öğenin dosyaları:

DosyalarBoyutBiçimGöster

Bu öğe ile ilişkili dosya yok.

Bu öğe aşağıdaki koleksiyon(lar)da görünmektedir.

Basit öğe kaydını göster