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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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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Orphanet Journal of Rare Diseases
volume
10
issue
1
article number
52
publisher
BioMed Central (BMC)
external identifiers
  • pmid:25934493
  • wos:000355917900001
  • pmid:25934493
  • scopus:84934950052
ISSN
1750-1172
DOI
10.1186/s13023-015-0271-4
language
English
LU publication?
yes
id
54dc9cd5-cf32-445d-9453-dc99f6fa861d (old id 5461337)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/25934493?dopt=Abstract
date added to LUP
2016-04-01 13:16:51
date last changed
2022-01-27 18:18:49
@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.}},
  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 (BMC)}},
  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          = {{https://lup.lub.lu.se/search/files/3275567/8593666.pdf}},
  doi          = {{10.1186/s13023-015-0271-4}},
  volume       = {{10}},
  year         = {{2015}},
}