Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. Au PYB, You J, Caluseriu O, Schwartzentruber J, Majewski J, Bernier FP, et al. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Hum Mutat. 2015;36:1009–14.
2. Lange L, Pagnamenta AT, Lise S, Clasper S, Stewart H, Akha ES, et al. A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia. Clin Genet. 2016;90:258–62.
3. Dentici ML, Barresi S, Niceta M, Pantaleoni F, Pizzi S, Dallapiccola B, et al. Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency. Clin Genet. 2017;93:1–7.
4. Pua HH, Krishnamurthi S, Farrell J, Margeta M, Ursell PC, Powers M, et al. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. Am J Med Genet A. 2014;164:237–42.
5. Hancarova M, Puchmajerova A, Drabova J, Karaskova E, Vlckova M, Sedlacek Z. Deletions of 9q21.3 including NTRK2 are associated with severe phenotype. Am J Med Genet A. 2015;167:264–7.
Cited by
30 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献