Literature DB >> 21834820

Infantile myofibromatosis: two families supporting autosomal dominant inheritance.

Annika Smith1, David Orchard.   

Abstract

We present two families in whom infantile myofibromatosis affects two generations. The disease expression in these families suggests an autosomal dominant mode of inheritance. Clinical diagnosis and establishment of the inheritance pattern have important prognostic implications for the affected individual and family members and serves to guide subsequent genetic counselling.
© 2011 The Authors; Australasian Journal of Dermatology © 2011 The Australasian College of Dermatologists.

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Year:  2011        PMID: 21834820     DOI: 10.1111/j.1440-0960.2011.00730.x

Source DB:  PubMed          Journal:  Australas J Dermatol        ISSN: 0004-8380            Impact factor:   2.875


  2 in total

1.  A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

Authors:  Yee Him Cheung; Tenzin Gayden; Philippe M Campeau; Charles A LeDuc; Donna Russo; Van-Hung Nguyen; Jiancheng Guo; Ming Qi; Yanfang Guan; Steffen Albrecht; Brenda Moroz; Karen W Eldin; James T Lu; Jeremy Schwartzentruber; David Malkin; Albert M Berghuis; Sherif Emil; Richard A Gibbs; David L Burk; Megan Vanstone; Brendan H Lee; David Orchard; Kym M Boycott; Wendy K Chung; Nada Jabado
Journal:  Am J Hum Genet       Date:  2013-05-23       Impact factor: 11.025

2.  Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Authors:  John A Martignetti; Lifeng Tian; Dong Li; Maria Celeste M Ramirez; Olga Camacho-Vanegas; Sandra Catalina Camacho; Yiran Guo; Dina J Zand; Audrey M Bernstein; Sandra K Masur; Cecilia E Kim; Frederick G Otieno; Cuiping Hou; Nada Abdel-Magid; Ben Tweddale; Denise Metry; Jean-Christophe Fournet; Eniko Papp; Elizabeth W McPherson; Carrie Zabel; Guy Vaksmann; Cyril Morisot; Brendan Keating; Patrick M Sleiman; Jeffrey A Cleveland; David B Everman; Elaine Zackai; Hakon Hakonarson
Journal:  Am J Hum Genet       Date:  2013-05-23       Impact factor: 11.025

  2 in total

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