Liesbeth S Smit

Summary

Affiliation: Erasmus MC
Country: The Netherlands

Publications

  1. ncbi request reprint Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family
    Liesbeth S Smit
    Department of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, Dr Molewaterplein 60, PO Box 2060, 3000 CB Rotterdam, The Netherlands
    Neuromuscul Disord 18:59-62. 2008
  2. doi request reprint Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement
    Yolande van Bever
    Department of Clinical Genetics, Erasmus Medical Centre, Sophia Children s Hospital, Rotterdam, The Netherlands
    Eur J Med Genet 52:426-9. 2009

Collaborators

  • Pieter A van Doorn
  • Yolande van Bever
  • Hans L J Hoeve
  • Jeroen Nauta
  • Saskia J Gischler
  • Dennis Dooijes

Detail Information

Publications2

  1. ncbi request reprint Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family
    Liesbeth S Smit
    Department of Pediatric Neurology, Erasmus MC Sophia Children s Hospital, Dr Molewaterplein 60, PO Box 2060, 3000 CB Rotterdam, The Netherlands
    Neuromuscul Disord 18:59-62. 2008
    ..Histopathologically there are no or thin myelin sheaths. Mutations have been described in the following genes, MPZ, EGR2, PMP22, and MTMR2. Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations...
  2. doi request reprint Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement
    Yolande van Bever
    Department of Clinical Genetics, Erasmus Medical Centre, Sophia Children s Hospital, Rotterdam, The Netherlands
    Eur J Med Genet 52:426-9. 2009
    ..Mutation analysis of the SALL1 gene, responsible for TBS, resulted in the identification of the de novo hot-spot mutation p.Arg276X. This report adds another rare, but serious manifestation to the multiorgan involvement found in TBS...