Liesbeth S Smit
Affiliation: Erasmus MC
Country: The Netherlands
- Congenital hypomyelinating neuropathy, a long term follow-up study in an affected familyLiesbeth 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...
- Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvementYolande 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...