Literature DB >> 21955542

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

Stéphanie Arpin1, Alexandra Afenjar, Béatrice Dubern, Annick Toutain, Sylvie Cabrol, Delphine Héron.   

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.

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Year:  2012        PMID： 21955542     DOI： 10.1097/MCD.0b013e32834af5a7

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  7 in total

1.  Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Authors:  Rebecca L Hood; Matthew A Lines; Sarah M Nikkel; Jeremy Schwartzentruber; Chandree Beaulieu; Małgorzata J M Nowaczyk; Judith Allanson; Chong Ae Kim; Dagmar Wieczorek; Jukka S Moilanen; Didier Lacombe; Gabriele Gillessen-Kaesbach; Margo L Whiteford; Caio Robledo D C Quaio; Israel Gomy; Debora R Bertola; Beate Albrecht; Konrad Platzer; George McGillivray; Ruobing Zou; D Ross McLeod; Albert E Chudley; Bernard N Chodirker; Janet Marcadier; Jacek Majewski; Dennis E Bulman; Susan M White; Kym M Boycott
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025

2.  Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature Review.

Authors:  Mariia E Turkunova; Yury A Barbitoff; Elena A Serebryakova; Dmitrii E Polev; Olga S Berseneva; Elena B Bashnina; Vladislav S Baranov; Oleg S Glotov; Andrey S Glotov
Journal:  Front Genet       Date:  2022-05-18       Impact factor: 4.772

3.  The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Authors:  Sarah M Nikkel; Andrew Dauber; Sonja de Munnik; Meghan Connolly; Rebecca L Hood; Oana Caluseriu; Jane Hurst; Usha Kini; Malgorzata J M Nowaczyk; Alexandra Afenjar; Beate Albrecht; Judith E Allanson; Paolo Balestri; Tawfeg Ben-Omran; Francesco Brancati; Isabel Cordeiro; Bruna Santos da Cunha; Louisa A Delaney; Anne Destrée; David Fitzpatrick; Francesca Forzano; Neeti Ghali; Greta Gillies; Katerina Harwood; Yvonne M C Hendriks; Delphine Héron; Alexander Hoischen; Engela Magdalena Honey; Lies H Hoefsloot; Jennifer Ibrahim; Claire M Jacob; Sarina G Kant; Chong Ae Kim; Edwin P Kirk; Nine V A M Knoers; Didier Lacombe; Chung Lee; Ivan F M Lo; Luiza S Lucas; Francesca Mari; Veronica Mericq; Jukka S Moilanen; Sanne Traasdahl Møller; Stephanie Moortgat; Daniela T Pilz; Kate Pope; Susan Price; Alessandra Renieri; Joaquim Sá; Jeroen Schoots; Elizabeth L Silveira; Marleen E H Simon; Anne Slavotinek; I Karen Temple; Ineke van der Burgt; Bert B A de Vries; James D Weisfeld-Adams; Margo L Whiteford; Dagmar Wierczorek; Jan M Wit; Connie Fung On Yee; Chandree L Beaulieu; Sue M White; Dennis E Bulman; Ernie Bongers; Han Brunner; Murray Feingold; Kym M Boycott
Journal:  Orphanet J Rare Dis       Date:  2013-04-27       Impact factor: 4.123

4.  The defining DNA methylation signature of Floating-Harbor Syndrome.

Authors:  Rebecca L Hood; Laila C Schenkel; Sarah M Nikkel; Peter J Ainsworth; Guillaume Pare; Kym M Boycott; Dennis E Bulman; Bekim Sadikovic
Journal:  Sci Rep       Date:  2016-12-09       Impact factor: 4.379

5.  Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

Authors:  Hyun Woo Son; Jeong Eun Lee; Seung Hwan Oh; Changwon Keum; Woo Yeong Chung
Journal:  Ann Pediatr Endocrinol Metab       Date:  2020-06-30

6.  Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.

Authors:  Shujie Zhang; Shaoke Chen; Haisong Qin; Haiming Yuan; Yalei Pi; Yu Yang; Hui Huang; Guimei Li; Yan Sun; Zhihua Wang; Huamei Ma; Xiaoling Fu; Ting Zhou; Jian Wang; Huifeng Zhang; Yiping Shen
Journal:  Orphanet J Rare Dis       Date:  2019-06-14       Impact factor: 4.123

7.  Floating-Harbor Syndrome: A Rare Case Report.

Authors:  Tejaswi Singana; Nelamakanahalli Kempaiah Suma; Anantha Murthy Sankriti
Journal:  Int J Clin Pediatr Dent       Date:  2020 Sep-Oct
  7 in total

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