Dental and Skeletal Characteristics and Behavioral Aspects of the Patient with Floating-Harbor Syndrome Compared with Twin Sister |
Jonghwa, Lim
(Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University)
Gimin, Kim (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University) Jaesik, Lee (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University) Soonhyeun, Nam (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University) Hyunjung, Kim (Department of Pediatric Dentistry, School of Dentistry, Kyungpook National University) |
1 | Nikkel SM, Dauber A, Boycott KM, et al. : The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis, 8:1-9, 2013. DOI |
2 | Kehrer M, Beckmann A, Tzschach A, et al. : Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. Clin Genet, 85:498-499, 2013. DOI |
3 | Seifert W, Meinecke P, Horn D, et al. : Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. BMC Med Genet, 15:1-5, 2014. DOI |
4 | Hood RL, Lines MA, FORGE Canada Consortium, et al. : Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet, 90:308-313, 2012. DOI |
5 | Budisteanu M, Bogershausen N, Wollnik B, et al. : FloatingHarbor syndrome: presentation of the first Romanian patient with a SRCAP mutation and review of the literature. Balkan J Med Genet, 21:83-86, 2018. DOI |
6 | Messina G, Atterrato MT, Dimitri P : When chromatin organisation floats astray: the Srcap gene and FloatingHarbor syndrome. J Med Genet, 53:793-797, 2016. DOI |
7 | White SM, Morgan A, Hurst JA, et al. : The phenotype of Floating-Harbor syndrome in 10 patients. Am J Med Genet A, 152:821-829, 2010. |
8 | Bastaki L, El-Nabi MM, Naguib KK, et al. : Floating-Harbor syndrome in a Kuwaiti patient: a case report and literature review. East Mediterr Health J, 13:975-979, 2007. |
9 | Arpin S, Afenjar A, Heron D, et al. : Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance. Clin Dysmorphol, 21:11-14, 2012. DOI |
10 | Zhang S, Chen S, Shen Y, et al . : Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome. Orphanet J Rare Dis, 14:1-11, 2019. DOI |
11 | De Benedetto MS, Mendes FM, Ciamponi AL, et al. : Floating-Harbor Syndrome: case report and craniofacial phenotype characterization. Int J Paediatr Dent, 14:208-213, 2004. DOI |
12 | Houlston RS, Collins AL, Dennis NR, Temple IK : Further observations on the Floating-Harbor syndrome. Clin Dysmorphol, 3:143-149, 1994. |
13 | Majewski F, Lenard HG : The Floating-Harbor syndrome. Eur J Pediatr, 150:250-252, 1991. DOI |
14 | Smeets E, Fryns JP, Van den Berghe H : The Floating-Harbor syndrome: report of another patient and differential diagnosis with Shprintzen syndrome. Genet Couns, 7:143-146, 1996. |
15 | Singh A, Bhatia HP, Mohan A, et al. : A novel finding of oligodontia and ankyloglossia in a 14-year-old with FloatingHarbor syndrome. Spec Care Dentist, 37:318-321, 2017. DOI |
16 | Ala-Mello S, Peippo M : Two more diagnostic signs in the Floating-Harbor syndrome. Clin Dysmorphol, 5:85-88, 1996. DOI |
17 | Ala-Mello S, Peippo M : The first Finnish patient with the Floating-Harbor syndrome: the follow-up of eight years. Am J Med Genet, 130:317-319, 2004. DOI |
18 | Midro AT, Olchowik B, Wisniewski A : Floating Harbor syndrome. Case report and further syndrome delineation. Ann Genet, 40:133-138, 1997. |
19 | Choi EM, Lee DH, Jang JH, et al. : The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing. Korean J Pediatr, 61:403-406, 2018. |
20 | Bamshad, Michael J, Shendure J, et al. : Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet, 12:745-755, 2011. DOI |
21 | Amita M, Srivastava P, Agarwal D, Phadke SR : Floating harbor syndrome. Indian J Pediatr, 83:896-897, 2016. DOI |
22 | Karaer K, Karaoguz MY, Percin EF, et al. : Floating-Harbor syndrome: A first female Turkish patient? Genet Couns, 17:465-468, 2006. |
23 | Paluzzi A, Viva LJ, Patton MA, et al. : Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. Clin Dysmorphol, 17:283-285, 2008. DOI |
24 | Dempsey PJ, Townsend GC : Genetic and environmental contributions to variation in human tooth size. Heredity (Edinb), 86:685-693, 2001. DOI |