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  • Schlögel, Matthieu J (author)

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

  • Article/chapterEnglish2015

Publisher, publication year, extent ...

  • 2015-05-02
  • Springer Science and Business Media LLC,2015
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:54dc9cd5-cf32-445d-9453-dc99f6fa861d
  • https://lup.lub.lu.se/record/5461337URI
  • https://doi.org/10.1186/s13023-015-0271-4DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Mendola, Antonella (author)
  • Fastré, Elodie (author)
  • Vasudevan, Pradeep (author)
  • Devriendt, Koen (author)
  • de Ravel, Thomy Jl (author)
  • Van Esch, Hilde (author)
  • Casteels, Ingele (author)
  • Arroyo Carrera, Ignacio (author)
  • Cristofoli, Francesca (author)
  • Fieggen, Karen (author)
  • Jones, Katheryn (author)
  • Lipson, Mark (author)
  • Balikova, Irina (author)
  • Singer, Ami (author)
  • Soller, MariaLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-mso (author)
  • Mercedes Villanueva, María (author)
  • Revencu, Nicole (author)
  • Boon, Laurence M (author)
  • Brouillard, Pascal (author)
  • Vikkula, Miikka (author)
  • Avdelningen för klinisk genetikInstitutionen för laboratoriemedicin (creator_code:org_t)

Related titles

  • In:Orphanet Journal of Rare Diseases: Springer Science and Business Media LLC10:11750-1172

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