Estudio clínico y molecular en una familia con displasia cleidocraneal

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dc.authorid0000-0002-1820-8489en_US
dc.authorid0000-0001-9276-4590en_US
dc.authorid0000-0001-6953-747Xen_US
dc.authorid0000-0002-2757-849Xen_US
dc.contributor.authorCallea, Michele
dc.contributor.authorFattori, Fabiana
dc.contributor.authorBertini, Enrico Silvio
dc.contributor.authorYavuz, İzzet
dc.contributor.authorBellacchio, Emanuele
dc.contributor.authorAvendaño, Andrea
dc.date.accessioned2023-11-30T05:55:39Z
dc.date.available2023-11-30T05:55:39Z
dc.date.issued2017en_US
dc.departmentDicle Üniversitesi, Diş Hekimliği Fakültesi, Çocuk Diş Hekimliği Bölümüen_US
dc.description.abstractCleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G>A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype.en_US
dc.description.abstractLa displasia cleidocraneal es una displasia ósea infrecuente con patrón de herencia autosómico dominante, que se caracteriza por presentar talla baja, fontanelas amplias, hipoplasia mediofacial, ausencia o hipoplasia de clavículas y alteraciones orodentales. Es producida por mutaciones en el gen RUNX2 localizado en 6p21.1. Se presentan dos adolescentes masculinos (primos hermanos) con displasia cleidocraneal, los cuales mostraron mutación heterocigota, cambio de sentido (c.674G>A, p.R225Q) en el gen RUNX2, caracterizados por presentar fenotipo grave, como ausencia de clavículas, pero con variación en el retardo en el cierre de fontanelas, alteraciones dentales (anomalías en forma y número) y escoliosis, por lo que se demuestra la variación intrafamiliar en estos pacientes con el mismo genotipo.en_US
dc.identifier.citationCallea, M., Fattori, F., Bertini, E. S., Yavuz, İ., Bellacchio, E. ve Avendaño, A. (2017). Clinical and molecular study in a family with cleidocranial dysplasia. Archivos Argentinos de Pediatria, 115(6), e440-e444.en_US
dc.identifier.doi10.5546/aap.2017.e440
dc.identifier.endpagee444en_US
dc.identifier.issn0325-0075
dc.identifier.issue6en_US
dc.identifier.pmid29087131
dc.identifier.scopus2-s2.0-85037171460
dc.identifier.scopusqualityQ3
dc.identifier.startpagee440en_US
dc.identifier.urihttps://www.sap.org.ar/docs/publicaciones/archivosarg/2017/v115n6a29.pdf
dc.identifier.urihttps://hdl.handle.net/11468/13061
dc.identifier.volume115en_US
dc.identifier.wosWOS:000417562600029
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorYavuz, İzzet
dc.language.isoesen_US
dc.publisherSociedad Argentina de Pediatriaen_US
dc.relation.ispartofArchivos Argentinos de Pediatria
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectDisplasia cleidocranealen_US
dc.subjectRUNX2en_US
dc.subjectc.674G>Aen_US
dc.subjectp.R225Q. gen_US
dc.subjectCleidocranial dysplasiaen_US
dc.titleEstudio clínico y molecular en una familia con displasia cleidocranealen_US
dc.titleEstudio clínico y molecular en una familia con displasia cleidocraneal
dc.title.alternativeClinical and molecular study in a family with cleidocranial dysplasiaen_US
dc.title.alternativeClinical and molecular study in a family with cleidocranial dysplasia
dc.typeArticleen_US

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