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Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant

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dc.contributor.authorGEÇKİNLİ, BİLGEN BİLGE
dc.contributor.authorALAVANDA, CEREN
dc.contributor.authorARMAN, AHMET
dc.contributor.authorsGEÇKİNLİ B. B., ALAVANDA C., Ates E. A., Yildirim O., ARMAN A.
dc.date.accessioned2023-07-04T09:01:53Z
dc.date.available2023-07-04T09:01:53Z
dc.date.issued2022-07-01
dc.description.abstractKBG syndrome (KBGS-OMIM:#148050) is a rare autosomal dominant disease characterized by short stature, intellectual disability, characteristic facies, skeletal anomalies and macrodontia that most commonly affect the permanent upper central incisors. In 2011, Sirmaci et al. (2011) identified heterozygous loss-of-function variants in the ANKRD11 gene on chromosome 16q24.3. So far, more than 150 patients have been reported in the literature. ANKRD11 gene encodes ankyrin repeat domain-containing protein 11 that regulates transcriptional activation (Zhang et al., 2004). Apart from single-nucleotide variations in the ANKRD11 gene, copy number variations on chromosome 16q24.3 can also cause KBG syndrome-like phenotype. In this study, we present a patient with de-novo novel missense variant in ANKRD11 gene. We have also identified skeletal bone enostosis as an additional finding, which is not previously reported.
dc.identifier.citationGEÇKİNLİ B. B., ALAVANDA C., Ates E. A., Yildirim O., ARMAN A., "Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant", CLINICAL DYSMORPHOLOGY, cilt.31, sa.3, ss.153-156, 2022
dc.identifier.doi10.1097/mcd.0000000000000421
dc.identifier.endpage156
dc.identifier.issn0962-8827
dc.identifier.issue3
dc.identifier.startpage153
dc.identifier.urihttps://hdl.handle.net/11424/290669
dc.identifier.volume31
dc.language.isoeng
dc.relation.ispartofCLINICAL DYSMORPHOLOGY
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectMedicine
dc.subjectHealth Sciences
dc.subjectInternal Medicine Sciences
dc.subjectMedical Genetics
dc.subjectLife Sciences
dc.subjectMolecular Biology and Genetics
dc.subjectNatural Sciences
dc.subjectGENETİK VE KALITIM
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETICS & HEREDITY
dc.subjectMOLECULAR BIOLOGY & GENETICS
dc.subjectLife Sciences (LIFE)
dc.subjectGenetik
dc.subjectMoleküler Biyoloji
dc.subjectGenetik (klinik)
dc.subjectGenetics
dc.subjectMolecular Biology
dc.subjectGenetics (clinical)
dc.titleEnostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant
dc.typearticle
dspace.entity.typePublication
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local.indexed.atPUBMED
local.indexed.atSCOPUS
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relation.isAuthorOfPublication.latestForDiscovery5f812a34-2d87-4040-b76f-0b90c1c695ae

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