| dc.contributor.author | Yüksel, Zafer | |
| dc.contributor.author | Yazol, Merve | |
| dc.contributor.author | Gümüs, Evren | |
| dc.date.accessioned | 2020-11-20T14:41:31Z | |
| dc.date.available | 2020-11-20T14:41:31Z | |
| dc.date.issued | 2019 | |
| dc.identifier.issn | 1552-4825 | |
| dc.identifier.issn | 1552-4833 | |
| dc.identifier.uri | https://doi.org/10.1002/ajmg.a.61210 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12809/939 | |
| dc.description | WOS: 000478591600032 | en_US |
| dc.description | PubMed ID: 31134736 | en_US |
| dc.description.abstract | The extensive usage of next generation sequencing, particularly for the patients affected with neurodevelopmental disorders, has increased our understanding and enabled identifying novel disorder genes. Here, we report an extended consanguineous family having at least three affected children with ACTL6B-related neurodevelopmental disorder and expand the known phenotypic spectrum by characterizing the clinical findings using a standardized vocabulary, Human Phenotype Ontology Terms. | en_US |
| dc.description.sponsorship | Common Fund of the Office of the Director of the National Institutes of Health; NCIUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI); NHGRIUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Human Genome Research Institute (NHGRI); NHLBIUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Heart Lung & Blood Institute (NHLBI); NIDAUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Drug Abuse (NIDA); NIMHUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Mental Health (NIMH); NINDSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Neurological Disorders & Stroke (NINDS) | en_US |
| dc.description.sponsorship | The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS. The data used for the analyses described in this manuscript were obtained from: [https://gtexportal.org/home/gene/ACTL6B] the GTEx Portal on07/12/18 and dbGaP Accession phs000424.v7.p2 on 07/12/2018. | en_US |
| dc.item-language.iso | eng | en_US |
| dc.publisher | Wiley | en_US |
| dc.item-rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | ACTLB6 | en_US |
| dc.subject | DECAM | en_US |
| dc.subject | Inframe Deletion | en_US |
| dc.subject | Neurodevelopment | en_US |
| dc.subject | WES | en_US |
| dc.title | Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination | en_US |
| dc.item-type | article | en_US |
| dc.contributor.department | MÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü | en_US |
| dc.contributor.institutionauthor | Gümüs, Evren | |
| dc.identifier.doi | 10.1002/ajmg.a.61210 | |
| dc.identifier.volume | 179 | en_US |
| dc.identifier.issue | 8 | en_US |
| dc.identifier.startpage | 1603 | en_US |
| dc.identifier.endpage | 1608 | en_US |
| dc.relation.journal | American Journal of Medical Genetics Part A | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
