Adıyaman Üniversitesi Kurumsal Arşivi

A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual

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dc.contributor.author Bağış, Haydar
dc.contributor.author Öztürk, Özden
dc.contributor.author Bolu, Semih
dc.contributor.author Taşkın, Bayram
dc.date.accessioned 2025-08-11T07:37:06Z
dc.date.available 2025-08-11T07:37:06Z
dc.date.issued 2020
dc.identifier.issn 2146-4596
dc.identifier.uri http://dspace.adiyaman.edu.tr:8080/xmlui/handle/20.500.12414/6590
dc.description.abstract The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due tomutations in one of the following genes: NIPBL, SMC1A, SMC3, RAD21, and HDAC8. On the other hand, 10q11.2 deletions cause a wide range of presentations in patients. Approximately 40 cases with variable deletions of 10q11.2 have been reported in literature. Some of the reported cases involve the coexistence of duplication or deletion affecting one copy of the chromosome. However, deletion of chromosome 10q11.22-q11.23 and CdLS syndrome caused by NIPBL gene mutations have not been reported previously. This report, therefore, is the first to report their coexistence together. tr
dc.language.iso en tr
dc.publisher GEORG THIEME VERLAG KG tr
dc.subject the Cornelia de Lange syndrome tr
dc.subject NIPBLgene tr
dc.subject 10q11 tr
dc.subject 2 micro deletion tr
dc.title A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual tr
dc.type Article tr
dc.contributor.authorID 0000-0002-1140-8058 tr
dc.contributor.authorID 0000-0001-8558-7901 tr
dc.contributor.department Adiyaman Univ, Med Sch, Dept Med Genet tr
dc.contributor.department Adiyaman Univ, Med Sch, Dept Pediat, Div Pediat Endocrinol tr
dc.contributor.department Haseki Educ & Res Hosp, Dept Med Genet tr
dc.identifier.endpage 252 tr
dc.identifier.issue 3 tr
dc.identifier.startpage 245 tr
dc.identifier.volume 11 tr
dc.source.title JOURNAL OF PEDIATRIC GENETICS tr


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