Search: onr:"swepub:oai:lup.lub.lu.se:54dc9cd5-cf32-445d-9453-dc99f6fa861d" >
No evidence of locu...
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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 ...
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2015-05-02
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Springer Science and Business Media LLC,2015
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:54dc9cd5-cf32-445d-9453-dc99f6fa861d
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https://lup.lub.lu.se/record/5461337URI
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https://doi.org/10.1186/s13023-015-0271-4DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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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
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Mendola, Antonella
(author)
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Fastré, Elodie
(author)
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Vasudevan, Pradeep
(author)
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Devriendt, Koen
(author)
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de Ravel, Thomy Jl
(author)
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Van Esch, Hilde
(author)
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Casteels, Ingele
(author)
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Arroyo Carrera, Ignacio
(author)
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Cristofoli, Francesca
(author)
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Fieggen, Karen
(author)
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Jones, Katheryn
(author)
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Lipson, Mark
(author)
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Balikova, Irina
(author)
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Singer, Ami
(author)
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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)
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Mercedes Villanueva, María
(author)
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Revencu, Nicole
(author)
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Boon, Laurence M
(author)
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Brouillard, Pascal
(author)
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Vikkula, Miikka
(author)
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Avdelningen för klinisk genetikInstitutionen för laboratoriemedicin
(creator_code:org_t)
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In:Orphanet Journal of Rare Diseases: Springer Science and Business Media LLC10:11750-1172
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Schlögel, Matthi ...
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Mendola, Antonel ...
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Fastré, Elodie
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Vasudevan, Prade ...
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Devriendt, Koen
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de Ravel, Thomy ...
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Van Esch, Hilde
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Casteels, Ingele
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Arroyo Carrera, ...
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Cristofoli, Fran ...
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Fieggen, Karen
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Jones, Katheryn
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Lipson, Mark
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Balikova, Irina
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Singer, Ami
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Soller, Maria
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Mercedes Villanu ...
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Revencu, Nicole
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Boon, Laurence M
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Brouillard, Pasc ...
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Vikkula, Miikka
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Lund University