본문 바로가기
KERD
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)

  1. 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)
  2. 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)
  3. 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)
  4. 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)
  5. Li Q, "Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome", Transl Pediatr, 10, pp.834~842 (2021)
  6. 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)
  7. Parenti I, "ANKRD11 variants : KBG syndrome and beyond", Clin Genet, 100, pp.187~200 (2021)
  8. Scarano E, "Novel mutations and unreported clinical features in KBG syndrome", Mol Syndromol, 10, pp.130~138 (2019)
  9. Low K, "Clinical and genetic aspects of KBG syndrome", Am J Med Genet A, 170, pp.2835~2846 (2016)
  10. Murray N, "KBG syndrome : An Australian experience", Am J Med Genet A, 173, pp.1866~1877 (2017)
  11. 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)