Literature DB >> 9571276

Three patients with the osteochondrodysplasia and hypertrichosis syndrome--Cantu syndrome.

E M Rosser1, H Kaariainen, J A Hurst, M Baraitser, C M Hall, P Clayton, J V Leonard.   

Abstract

Cantu syndrome is a rare condition whose main features are hypertrichosis, cardiac anomalies and wide ribs. Four children have been described and we now present details of a further three. The parents of one of these are first cousins, adding weight to Cantu's theory that the condition is an autosomal recessive disease.

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Year:  1998        PMID： 9571276     DOI： 10.1097/00019605-199804000-00001

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


  8 in total

Review 1.  ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target.

Authors:  Peter T Nelson; Gregory A Jicha; Wang-Xia Wang; Eseosa Ighodaro; Sergey Artiushin; Colin G Nichols; David W Fardo
Journal:  Ageing Res Rev       Date:  2015-07-28       Impact factor: 10.895

2.  Dominant missense mutations in ABCC9 cause Cantú syndrome.

Authors:  Magdalena Harakalova; Jeske J T van Harssel; Paulien A Terhal; Stef van Lieshout; Karen Duran; Ivo Renkens; David J Amor; Louise C Wilson; Edwin P Kirk; Claire L S Turner; Debbie Shears; Sixto Garcia-Minaur; Melissa M Lees; Alison Ross; Hanka Venselaar; Gert Vriend; Hiroki Takanari; Martin B Rook; Marcel A G van der Heyden; Folkert W Asselbergs; Hans M Breur; Marielle E Swinkels; Ingrid J Scurr; Sarah F Smithson; Nine V Knoers; Jasper J van der Smagt; Isaac J Nijman; Wigard P Kloosterman; Mieke M van Haelst; Gijs van Haaften; Edwin Cuppen
Journal:  Nat Genet       Date:  2012-05-18       Impact factor: 38.330

Review 3.  The shifting landscape of KATP channelopathies and the need for 'sharper' therapeutics.

Authors:  Sujay V Kharade; Colin Nichols; Jerod S Denton
Journal:  Future Med Chem       Date:  2016-05-10       Impact factor: 3.808

4.  Cantú syndrome is caused by mutations in ABCC9.

Authors:  Bregje W M van Bon; Christian Gilissen; Dorothy K Grange; Raoul C M Hennekam; Hülya Kayserili; Hartmut Engels; Heiko Reutter; John R Ostergaard; Eva Morava; Konstantinos Tsiakas; Bertrand Isidor; Martine Le Merrer; Metin Eser; Nienke Wieskamp; Petra de Vries; Marloes Steehouwer; Joris A Veltman; Stephen P Robertson; Han G Brunner; Bert B A de Vries; Alexander Hoischen
Journal:  Am J Hum Genet       Date:  2012-05-17       Impact factor: 11.025

Review 5.  KATP channels and cardiovascular disease: suddenly a syndrome.

Authors:  Colin G Nichols; Gautam K Singh; Dorothy K Grange
Journal:  Circ Res       Date:  2013-03-29       Impact factor: 17.367

Review 6.  Adenosine Triphosphate-Sensitive Potassium Currents in Heart Disease and Cardioprotection.

Authors:  Colin G Nichols
Journal:  Card Electrophysiol Clin       Date:  2016-03-19

Review 7.  Identifying neurocognitive phenotypes in autism.

Authors:  Helen Tager-Flusberg; Robert M Joseph
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2003-02-28       Impact factor: 6.237

8.  Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

Authors:  Harry Pachajoa; William López-Quintero; Sara Vanegas; Claudia L Montoya; Diana Ramírez-Montaño
Journal:  Appl Clin Genet       Date:  2018-03-23
  8 in total

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