Literature DB >> 24766421

Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

B Diebold1, C Délepine, J Nectoux, N Bahi-Buisson, P Parent, T Bienvenu.   

Abstract

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Year:  2013        PMID： 24766421     DOI： 10.1111/cge.12212

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


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  2 in total

1.  Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Authors:  Nancy Vegas; Mara Cavallin; Camille Maillard; Nathalie Boddaert; Joseph Toulouse; Elise Schaefer; Tally Lerman-Sagie; Dorit Lev; Barth Magalie; Sébastien Moutton; Eric Haan; Bertrand Isidor; Delphine Heron; Mathieu Milh; Stéphane Rondeau; Caroline Michot; Stephanie Valence; Sabrina Wagner; Marie Hully; Cyril Mignot; Alice Masurel; Alexandre Datta; Sylvie Odent; Mathilde Nizon; Leila Lazaro; Marie Vincent; Benjamin Cogné; Anne Marie Guerrot; Stéphanie Arpin; Jean Michel Pedespan; Isabelle Caubel; Benedicte Pontier; Baptiste Troude; Francois Rivier; Christophe Philippe; Thierry Bienvenu; Marie-Aude Spitz; Amandine Bery; Nadia Bahi-Buisson
Journal:  Neurol Genet       Date:  2018-11-07

2.  Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.

Authors:  Qingping Zhang; Jiaping Wang; Jiarui Li; Xinhua Bao; Ying Zhao; Xiaoying Zhang; Liping Wei; Xiru Wu
Journal:  BMC Med Genet       Date:  2017-08-29       Impact factor: 2.103
  2 in total

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