dc.contributor.author | YÜCE KAHRAMAN, Çiğdem | |
dc.contributor.author | Kahraman, Mustafa | |
dc.contributor.author | Ercoskun, Pelin | |
dc.contributor.author | TATAR, Abdulgani | |
dc.contributor.author | Kanjee, Momen | |
dc.date.accessioned | 2022-07-04T15:44:56Z | |
dc.date.available | 2022-07-04T15:44:56Z | |
dc.identifier.citation | Kanjee M., YÜCE KAHRAMAN Ç., Ercoskun P., TATAR A., Kahraman M., "A Novel nonsense variant in the CDH2 gene associated with ACOGS: A case report", AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022 | |
dc.identifier.issn | 1552-4825 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_c04380fc-a2da-4937-b61f-0de3fb71b7bf | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/184516 | |
dc.identifier.uri | https://doi.org/10.1002/ajmg.a.62861 | |
dc.description.abstract | Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome (ACOGS; OMIM #618929) is a rare genetic disorder characterized by global developmental delay, agenesis or hypoplasia of corpus callosum, craniofacial dysmorphism, ocular, cardiac, and genital anomalies. ACOGS is caused by variations in the CDH2 gene. Our patient had a novel finding besides the classical findings of ACOGS. To the best of our knowledge, only 14 patients with ACOGS have been reported. Here, we reported the fifteenth patient with ACOGS, having a novel de novo nonsense variant in the CDH2 gene, and the first patient from Turkey with a novel finding. Our patient was the first female to have a renal anomaly since only genital malformations were reported in male patients (cryptorchidism, micropenis) so far. | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Genetics | |
dc.subject | Molecular Biology | |
dc.subject | Genetics (clinical) | |
dc.subject | Life Sciences | |
dc.subject | Health Sciences | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.title | A Novel nonsense variant in the CDH2 gene associated with ACOGS: A case report | |
dc.type | Makale | |
dc.relation.journal | AMERICAN JOURNAL OF MEDICAL GENETICS PART A | |
dc.contributor.department | Atatürk Üniversitesi , , | |
dc.contributor.firstauthorID | 3433908 | |