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Case Reports

Novel retinal finding in a patient with 4q12 deletion

ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, , ORCID Icon, ORCID Icon & ORCID Icon show all
Pages 120-122 | Received 14 Jun 2021, Accepted 29 Aug 2021, Published online: 22 Sep 2021

References

  • Slavotinek A, Kingston H. Interstitial deletion of bands 4q1 2 q1 3.1: case report and review of proximal 4q deletions. J Med Genet. 1997;34:862–65. doi:10.1136/jmg.34.10.862.
  • Sijmons RH, Kristoffersson U, Tuerlings JH, Ljung R, Dijkhuis-Stoffelsma R, Breed AS. Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4. Pediatr Dermatol. 1993 Sep;10(3):235–39. doi:10.1111/j.1525-1470.1993.tb00367.x.
  • Hemati P, Du Souich C, Boerkoel CF. 4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. Am J Med Genet A. 2015 Jan;167A(1):231–37. doi:10.1002/ajmg.a.36821.
  • Agarwal S, Ojha A. Piebaldism: a brief report and review of the literature. Indian Dermatol Online J. 2012 May-Aug;3(2):144. doi:10.4103/2229-5178.96722.
  • Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, et al. Congenital sensorineural hearing loss and inborn pigmentary disorders: first report of multilocus syndrome in piebaldism. Medicina (Kaunas). 2019 Jul 7;55(7):345. doi: 10.3390/medicina55070345.

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