Mutation in CEP135 causing primary microcephaly and subcortical heterotopia
| Autor: | Hülya-Sevcan Daimagüler, Peter Nürnberg, Muhammad Sajid Hussain, Sebahattin Cirak, Andreas Hahn, Daniel Bamborschke |
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| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty Adolescent Primary microcephaly Subcortical heterotopia Biology Child Preschool Mutation Mutation (genetic algorithm) Microcephaly Genetics medicine Humans Female Genetic Predisposition to Disease CEP135 Carrier Proteins Child Microtubule-Associated Proteins Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics Part A. 182:2450-2453 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.61762 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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