Literature DB >> 19659891

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

F Brancati, L Bernardini, D P Cavalcanti, C Romano, A Novelli, B Dallapiccola.   

Abstract

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Year:  2009        PMID: 19659891     DOI: 10.1111/j.1399-0004.2009.01235.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  1 in total

1.  Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Authors:  Lina Basel-Vanagaite; Bruno Dallapiccola; Ramiro Ramirez-Solis; Alexandra Segref; Holger Thiele; Andrew Edwards; Mark J Arends; Xavier Miró; Jacqueline K White; Julie Désir; Marc Abramowicz; Maria Lisa Dentici; Francesca Lepri; Kay Hofmann; Adi Har-Zahav; Edward Ryder; Natasha A Karp; Jeanne Estabel; Anna-Karin B Gerdin; Christine Podrini; Neil J Ingham; Janine Altmüller; Gudrun Nürnberg; Peter Frommolt; Sonia Abdelhak; Metsada Pasmanik-Chor; Osnat Konen; Richard I Kelley; Mordechai Shohat; Peter Nürnberg; Jonathan Flint; Karen P Steel; Thorsten Hoppe; Christian Kubisch; David J Adams; Guntram Borck
Journal:  Am J Hum Genet       Date:  2012-11-29       Impact factor: 11.025

  1 in total

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