NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome

  title={NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome},
  author={G. Borck and R. Redon and D. Sanlaville and M. Rio and M. Prieur and S. Lyonnet and M. Vekemans and N. Carter and A. Munnich and L. Colleaux and V. Cormier-Daire},
  journal={Journal of Medical Genetics},
  pages={e128 - e128}
  • G. Borck, R. Redon, +8 authors V. Cormier-Daire
  • Published 2004
  • Biology, Medicine
  • Journal of Medical Genetics
  • Cornelia de Lange syndrome (CdLS, also called Brachmann de Lange syndrome; OMIM 122470) is characterised by pre- and postnatal growth retardation, microcephaly, severe mental retardation with speech delay, feeding problems, major malformations including limb defects, and characteristic facial features.1 Facial dysmorphism includes arched eyebrows, synophrys, short nose with anteverted nares, long philtrum, thin upper lip, and micrognathia. Although few autosomal dominant forms of CdLS have been… CONTINUE READING
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