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

Schlögel, Matthieu J; Mendola, Antonella; Fastré, Elodie; Vasudevan, Pradeep; Devriendt, Koen; de Ravel, Thomy Jl; Van Esch, Hilde; Casteels, Ingele; Arroyo Carrera, Ignacio and Cristofoli, Francesca, et al. (2015) In Orphanet Journal of Rare Diseases 10(1).
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.
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Orphanet Journal of Rare Diseases
volume
10
issue
1
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BioMed Central
external identifiers
  • pmid:25934493
  • wos:000355917900001
  • scopus:84934950052
ISSN
1750-1172
DOI
10.1186/s13023-015-0271-4
language
English
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yes
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54dc9cd5-cf32-445d-9453-dc99f6fa861d (old id 5461337)
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http://www.ncbi.nlm.nih.gov/pubmed/25934493?dopt=Abstract
date added to LUP
2015-06-04 13:27:09
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2017-04-02 03:42:42
@article{54dc9cd5-cf32-445d-9453-dc99f6fa861d,
  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.},
  articleno    = {52},
  author       = {Schlögel, Matthieu J and Mendola, Antonella and Fastré, Elodie and Vasudevan, Pradeep and Devriendt, Koen and de Ravel, Thomy Jl and Van Esch, Hilde and Casteels, Ingele and Arroyo Carrera, Ignacio and Cristofoli, Francesca and Fieggen, Karen and Jones, Katheryn and Lipson, Mark and Balikova, Irina and Singer, Ami and Soller, Maria and Mercedes Villanueva, María and Revencu, Nicole and Boon, Laurence M and Brouillard, Pascal and Vikkula, Miikka},
  issn         = {1750-1172},
  language     = {eng},
  number       = {1},
  publisher    = {BioMed Central},
  series       = {Orphanet Journal of Rare Diseases},
  title        = {No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.},
  url          = {http://dx.doi.org/10.1186/s13023-015-0271-4},
  volume       = {10},
  year         = {2015},
}