|
|
| CrossRef Text and Data Mining | |
| Result of CrossRef Text and Data Mining Search is the related articles with entitled article. If you click link1 or link2 you will be able to reach the full text site of selected articles; however, some links do not show the full text immediately at now. If you click CrossRef Text and Data Mining Download icon, you will be able to get whole list of articles from literature included in CrossRef Text and Data Mining. | |
| First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln) | |
| Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo | |
|
Ann Pediatr Endocrinol Metab. 2019;24(4):253-256. Published online December 31, 2019 DOI: https://doi.org/10.6065/apem.2019.24.4.253 |
|
|
First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln) Annals of Pediatric Endocrinology & Metabolism. 2019;24(4):253-256  Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder Human Genome Variation. 2020;7(1): NovelDNMT3Agermline mutations are associated with inherited Tatton-Brown-Rahman syndrome Clinical Genetics. 2017;91(4):623-628 Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome Frontiers in Genetics. 2022;13: Acute myeloid leukemia-associatedDNMT3Ap.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation American Journal of Medical Genetics Part A. 2016;173(1):250-253 The First Korean Case of Gorlin–Goltz Syndrome Caused by a PTCH2 Pathogenic Variant Identified via Whole Exome Sequencing Laboratory Medicine Online. 2020;10(2):175 Tatton‐Brown‐Rahman syndrome: cognitive and behavioural phenotypes Developmental Medicine & Child Neurology. 2019;62(8):993-998 Sotos syndrome European Journal of Human Genetics. 2006;15(3):264-271 PO-04-166 DISTURBED PH CONTROL BY A NOVEL VARIANT IDENTIFIED IN A SHORT QT SYNDROME FAMILY WITH A VARIANT Heart Rhythm. 2023;20(5):S560 The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome American Journal of Medical Genetics Part A. 2019; |
