Title |
Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation
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Published in |
Orphanet Journal of Rare Diseases, April 2013
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DOI | 10.1186/1750-1172-8-59 |
Pubmed ID | |
Authors |
Lina Issa, Katrin Mueller, Katja Seufert, Nadine Kraemer, Henning Rosenkotter, Olaf Ninnemann, Michael Buob, Angela M Kaindl, Deborah J Morris-Rosendahl |
Abstract |
Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simplified cortical gyration and intellectual disability. Homozygous mutations in the Cyclin-dependent kinase 5 regulatory subunit-associated protein 2 gene CDK5RAP2 are the cause of MCPH3. Despite considerable interest in MCPH as a model disorder for brain development, the underlying pathomechanism has not been definitively established and only four pedigrees with three CDK5RAP2 mutations have been reported. Specifically for MCPH3, no detailed radiological or histological descriptions exist. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Mexico | 1 | 33% |
Unknown | 2 | 67% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 67% |
Scientists | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Japan | 1 | 2% |
United States | 1 | 2% |
Unknown | 51 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 18 | 34% |
Researcher | 8 | 15% |
Student > Master | 4 | 8% |
Professor > Associate Professor | 3 | 6% |
Student > Doctoral Student | 3 | 6% |
Other | 8 | 15% |
Unknown | 9 | 17% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 14 | 26% |
Agricultural and Biological Sciences | 10 | 19% |
Psychology | 6 | 11% |
Medicine and Dentistry | 5 | 9% |
Neuroscience | 3 | 6% |
Other | 4 | 8% |
Unknown | 11 | 21% |