No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Research output: Contribution to journalArticle

Abstract

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5.

Details

Authors
  • Matthieu J Schlögel
  • Antonella Mendola
  • Elodie Fastré
  • Pradeep Vasudevan
  • Koen Devriendt
  • Thomy Jl de Ravel
  • Hilde Van Esch
  • Ingele Casteels
  • Ignacio Arroyo Carrera
  • Francesca Cristofoli
  • Karen Fieggen
  • Katheryn Jones
  • Mark Lipson
  • Irina Balikova
  • Ami Singer
  • Maria Soller
  • María Mercedes Villanueva
  • Nicole Revencu
  • Laurence M Boon
  • Pascal Brouillard
  • And 1 others
  • Miikka Vikkula
Organisations
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics
Original languageEnglish
Article number52
JournalOrphanet Journal of Rare Diseases
Volume10
Issue number1
Publication statusPublished - 2015
Publication categoryResearch
Peer-reviewedYes

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