Clin Dysmorphol. 2012 Jan;21(1):11-4. doi: 10.1097/MCD.0b013e32834af5a7.

Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.

Arpin S, Afenjar A, Dubern B, Toutain A, Cabrol S, Héron D.

Source

Département de Génétique et Cytogénétique et Centre de référence 'déficiences intellectuelles de causes rares', Groupe Hospitalier Pitié-Salpêtrière, Tours, France. stephanie.arpin@univ-tours.fr

Abstract

Floating-Harbor Syndrome is a growth retardation syndrome with delayed bone age, typical facial features, and retarded speech development of unknown etiology. Very few familial cases have been reported. We report on the fourth case in a mother and daughter, suggesting autosomal dominant inheritance.

PMID:: 21955542; [PubMed - indexed for MEDLINE]

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Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1. [Am J Med Genet A. 2012]
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Cited by 2 PubMed Central articles

The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. [Orphanet J Rare Dis. 2013]
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, et al. Orphanet J Rare Dis. 2013 Apr 27; 8(1):63. Epub 2013 Apr 27.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. [Am J Hum Genet. 2012]
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, et al. Am J Hum Genet. 2012 Feb 10; 90(2):308-13. Epub 2012 Jan 19.

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Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.
Clin Dysmorphol. 2012 Jan ;21(1):11-4. doi: 10.1097/MCD.0b013e32834af5a7.

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