Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identifi...

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Vydáno v:Acta Neuropathol Commun
Hlavní autoři: Fallet-Bianco, Catherine, Laquerrière, Annie, Poirier, Karine, Razavi, Ferechte, Guimiot, Fabien, Dias, Patricia, Loeuillet, Laurence, Lascelles, Karine, Beldjord, Cherif, Carion, Nathalie, Toussaint, Aurélie, Revencu, Nicole, Addor, Marie-Claude, Lhermitte, Benoit, Gonzales, Marie, Martinovich, Jelena, Bessieres, Bettina, Marcy-Bonnière, Maryse, Jossic, Frédérique, Marcorelles, Pascale, Loget, Philippe, Chelly, Jamel, Bahi-Buisson, Nadia
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4222268/
https://ncbi.nlm.nih.gov/pubmed/25059107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-2-69
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