No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/5461337
- author
- organization
- publishing date
- 2015
- 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}}, }