논문KCI 등재
Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome
2
조회
0
다운로드
0
인용
0
참고문헌
주제분류병리학
참고문헌 (11)
- Goldenberg A, "Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11", Am J Med Genet A, 170, pp.2847~2859 (2016)
- Sirmaci A, "Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia", Am J Hum Genet, 89, pp.289~294 (2011)
- Zhang T, "Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway", Am J Med Genet A, 185, pp.710~718 (2021)
- Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Li Q, "Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome", Transl Pediatr, 10, pp.834~842 (2021)
- de Boer E, "Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein", Genet Med, 24, pp.2051~2064 (2022)
- Parenti I, "ANKRD11 variants : KBG syndrome and beyond", Clin Genet, 100, pp.187~200 (2021)
- Scarano E, "Novel mutations and unreported clinical features in KBG syndrome", Mol Syndromol, 10, pp.130~138 (2019)
- Low K, "Clinical and genetic aspects of KBG syndrome", Am J Med Genet A, 170, pp.2835~2846 (2016)
- Murray N, "KBG syndrome : An Australian experience", Am J Med Genet A, 173, pp.1866~1877 (2017)
- Kim HJ, "A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion", Eur J Med Genet, 58, pp.86~94 (2015)
관련 논문AI추천
Early-Onset Parkinson’s Disease in a Patient With a De Novo Frameshift Variant of the ANKRD11 Gene and KBG SyndromeAikaterini Theodorou, Danai Stefanou, Eleftheria Koropouli, George P Paraskevas, Georgia Pepe, Georgios Tsivgoulis, Maria-Ioanna Stefanou, Vasileios K. Katsaros대한신경과학회 · Journal of Clinical Neurology2025 · 제21권 제2호Early Diagnosis of KBG Syndrome Using Diagnostic Exome Sequencing강훈철, 김세희, 김흥동, 이승태, 이준수, 최종락, 홍준호대한소아신경학회 · 대한소아신경학회지2018 · 제26권 제4호A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenitaHeo Seung, Hwang Jin Soon, Lee Hae Sang, Shim Young Suk대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제3호Male hypogonadism caused by a homozygous missense mutation of the LHB geneJie Chen, Wen-ting Wang, Wen-ting Yi, Xiong Wang, Yuan-Qing Cui대한내과학회 · The Korean Journal of Internal Medicine2021 · 제36권 제6호A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome김유미, 서을주, 유한욱, 이진옥, 임지훈, 전종근, 조현주대한진단검사의학회 · Annals of Laboratory Medicine2014 · 제34권 제5호Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency전종근, Kang Jaebeen, Kim Min-Ji, Yoo Sukdong대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제3호
이 간행물의 다른 논문 (16건)
Challenges of Carbapenem-resistant Pseudomonas aeruginosa in Infection Control and Antibiotic Management허희재, 성흥섭, 김영진pp. 1-2New Insights Into SARS-CoV-2-specific Antibody Levels in Kidney Transplantation Recipients After Three Vaccination DosesKang Hyunhye, Kang Hyunhyepp. 3-5Bias in Laboratory Medicine: The Dark Side of the MoonCoskun Abdurrahmanpp. 6-20Ionized Magnesium Correlates With Total Blood Magnesium in Pediatric Patients Following Kidney TransplantBenoit Stefanie W., Varnell Charles D., Merrill Kyle A., Hasson Denise C., Mohan Shruthi, Rose James E., Goldstein Stuart L.pp. 21-28Comparison of Direct and Extraction Immunoassay Methods With Liquid Chromatography-Tandem Mass Spectrometry Measurement of Urinary Free Cortisol for the Diagnosis of Cushing’s SyndromeXia Liangyu, Hu Yingying, Song Ailing, Zhao Fang, Qi Zhihong, Zhang Kui, Ma Yichen, Qiu Ling, Zhu Huijuan, Cheng Xinqi, Yu Songlin, Fang Jiadan, Mu Danni, Zhang Qi, Cheng Jinpp. 29-37
