References
- Herrmann J, Pallister PD, Tiddy W, Opitz JM. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser 1975;11:7-18.
- Skjei KL, Martin MM, Slavotinek AM. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet A 2007;143A:292-300. https://doi.org/10.1002/ajmg.a.31597
- Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. Am J Hum Genet 2011;89:289-94. https://doi.org/10.1016/j.ajhg.2011.06.007
- Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, et al. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. Eur J Hum Genet 2015;23:1176-85. https://doi.org/10.1038/ejhg.2014.253
- Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, et al. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Am J Med Genet A 2016;170:2847-59. https://doi.org/10.1002/ajmg.a.37878
- Kim HJ, Cho E, Park JB, Im WY, 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 2015;58:86-94. https://doi.org/10.1016/j.ejmg.2014.11.003
- Miyatake S, Okamoto N, Stark Z, Nabetani M, Tsurusaki Y, Nakashima M, et al. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. J Hum Genet 2017;62:741-6. https://doi.org/10.1038/jhg.2017.24
- Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, et al. Clinical and genetic aspects of KBG syndrome. Am J Med Genet A 2016;170:2835-46. https://doi.org/10.1002/ajmg.a.37842
- Ka M, Kim WY. ANKRD11 associated with intellectual disability and autism regulates dendrite differentiation via the BDNF/TrkB signaling pathway. Neurobiol Dis 2018;111:138-52. https://doi.org/10.1016/j.nbd.2017.12.008
- Gallagher D, Voronova A, Zander MA, Cancino GI, Bramall A, Krause MP, et al. Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. Dev Cell 2015;32:31-42. https://doi.org/10.1016/j.devcel.2014.11.031
- Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A. Idiopathic congenital central hypoventilation syndrome: evaluation of brainderived neurotrophic factor genomic DNA sequence variation. Am J Med Genet 2002;107:306-10. https://doi.org/10.1002/ajmg.10133
- Hoehner JC, Wester T, Pahlman S, Olsen L. Alterations in neurotrophin and neurotrophin-receptor localization in Hirschsprung's disease. J Pediatr Surg 1996;31:1524-9. https://doi.org/10.1016/S0022-3468(96)90170-0
- Boesmans W, Gomes P, Janssens J, Tack J, Vanden Berghe P. Brainderived neurotrophic factor amplifies neurotransmitter responses and promotes synaptic communication in the enteric nervous system. Gut 2008;57:314-22. https://doi.org/10.1136/gut.2007.131839
- Murray N, Burgess B, Hay R, Colley A, Rajagopalan S, McGaughran J, et al. KBG syndrome: an Australian experience. Am J Med Genet A 2017;173:1866-77. https://doi.org/10.1002/ajmg.a.38121