View in EDS

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).

Saved in:
Bibliographic Details
Title: A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
Authors: El-Bazzal, Lara1 (AUTHOR), Atkinson, Alexandre1 (AUTHOR), Gillart, Anne-Celine2 (AUTHOR), Obeid, Marc3 (AUTHOR), Delague, Valérie1 (AUTHOR), Mégarbané, André1,2 (AUTHOR) andre.megarbane@institutlejeune.org
Source: European Journal of Medical Genetics. Apr2019, Vol. 62 Issue 4, p259-264. 6p.
Database: Academic Search Ultimate
FullText Text:
  Availability: 0
Header DbId: asn
DbLabel: Academic Search Ultimate
An: 135398662
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22El-Bazzal%2C+Lara%22">El-Bazzal, Lara</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Atkinson%2C+Alexandre%22">Atkinson, Alexandre</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gillart%2C+Anne-Celine%22">Gillart, Anne-Celine</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Obeid%2C+Marc%22">Obeid, Marc</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Delague%2C+Valérie%22">Delague, Valérie</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mégarbané%2C+André%22">Mégarbané, André</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> andre.megarbane@institutlejeune.org</i>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Medical+Genetics%22">European Journal of Medical Genetics</searchLink>. Apr2019, Vol. 62 Issue 4, p259-264. 6p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=135398662
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ejmg.2018.07.025
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 6
        StartPage: 259
    Titles:
      – TitleFull: A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: El-Bazzal, Lara
      – PersonEntity:
          Name:
            NameFull: Atkinson, Alexandre
      – PersonEntity:
          Name:
            NameFull: Gillart, Anne-Celine
      – PersonEntity:
          Name:
            NameFull: Obeid, Marc
      – PersonEntity:
          Name:
            NameFull: Delague, Valérie
      – PersonEntity:
          Name:
            NameFull: Mégarbané, André
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: Apr2019
              Type: published
              Y: 2019
          Identifiers:
            – Type: issn-print
              Value: 17697212
          Numbering:
            – Type: volume
              Value: 62
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: European Journal of Medical Genetics
              Type: main
ResultId 1