Literature DB >> 19625956

Further evidence of dominant inheritance of Kabuki syndrome.

Caroline C Pottinger1, Rhianwen E Stiff, Judy M Holroyd, Sally J Davies.   

Abstract

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Mesh：

Year:  2009        PMID： 19625956     DOI： 10.1097/MCD.0b013e32832c012e

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


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  2 in total

1.  How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Authors:  Siddharth Banka; Ratna Veeramachaneni; William Reardon; Emma Howard; Sancha Bunstone; Nicola Ragge; Michael J Parker; Yanick J Crow; Bronwyn Kerr; Helen Kingston; Kay Metcalfe; Kate Chandler; Alex Magee; Fiona Stewart; Vivienne P M McConnell; Deirdre E Donnelly; Siren Berland; Gunnar Houge; Jenny E Morton; Christine Oley; Nicole Revencu; Soo-Mi Park; Sally J Davies; Andrew E Fry; Sally Ann Lynch; Harinder Gill; Susann Schweiger; Wayne W K Lam; John Tolmie; Shehla N Mohammed; Emma Hobson; Audrey Smith; Moira Blyth; Christopher Bennett; Pradeep C Vasudevan; Sixto García-Miñaúr; Alex Henderson; Judith Goodship; Michael J Wright; Richard Fisher; Richard Gibbons; Susan M Price; Deepthi C de Silva; I Karen Temple; Amanda L Collins; Katherine Lachlan; Frances Elmslie; Meriel McEntagart; Bruce Castle; Jill Clayton-Smith; Graeme C Black; Dian Donnai
Journal:  Eur J Hum Genet       Date:  2011-11-30       Impact factor: 4.246

2.  Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

Authors:  Nancy Mizue Kokitsu-Nakata; Aline Lourenço Petrin; Jason Paul Heard; Siulan Vendramini-Pittoli; Laura E Henkle; Daniela Vera Cruz dos Santos; Jeffrey Clark Murray; Antonio Richieri-Costa
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802
  2 in total

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