SRCAP FLHS

Publications

Robinson P L et al. A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome). J Pediatr. 1988;113(4):703-6.  PMID: 3171794.

Patton M A et al. Floating-Harbor syndrome. J Med Genet. 1991;28(3):201-4.  PMID: 2051457.

Chudley A E et al. Floating-Harbor syndrome and celiac disease. Am J Med Genet. 1991;38(4):562-4.  PMID: 2063899.

Houlston R S et al. Further observations on the Floating-Harbor syndrome. Clin Dysmorphol. 1994;3(2):143-9.  PMID: 8055134.

Lazebnik N et al. The floating harbor syndrome with cardiac septal defect. Am J Med Genet. 1996;66(3):300-2. Review.  PMID: 8985491.

Cannavo S et al. Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. J Endocrinol Invest. 2002;25(1):58-64.  PMID: 11883867.

Feingold M. Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome. Am J Med Genet A. 2006;140(7):782-4.  PMID: 16523514.

Stagi S et al. Precocious puberty in a girl with floating-harbor syndrome. J Pediatr Endocrinol Metab. 2007;20(12):1333-7.  PMID: 18341094.

Asseidat I et al. Ocular abnormalities in Floating-Harbor syndrome. J AAPOS. 2009;13(2):218-20.  PMID: 19393524.

Paluzzi A et al. Ruptured cerebral aneurysm in a patient with Floating-Harbor syndrome. Clin Dysmorphol. 2008;17(4):283-5.  PMID: 18978661.

Hendrickx J J et al. Floating-Harbor syndrome associated with middle ear abnormalities. Am J Med Genet A. 2010;152A(1):161-4.  PMID: 20014123.

White S M et al. The phenotype of Floating-Harbor syndrome in 10 patients. Am J Med Genet A. 2010;152A(4):821-9.  PMID: 20358590.

Hood R L et al. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012;90(2):308-13.  PMID: 22265015

Le Goff C et al. Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCA. Hum Mutat. 2013;34(1):88-92.  PMID: 22965468.

Reschen M et al. Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation. Am J Med Genet A. 2012;158A(12):3196-200.  PMID: 23165645.

Nikkel S M et al. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013;8:63.  PMID: 23621943.

Kehrer M et al. Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. Clin Genet. 2014;85(5):498-9.  PMID: 23763483.