Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly

PURPOSE: Microcephaly is a sign of many genetic conditions but has been rarely systematically evaluated. We therefore comprehensively studied the clinical and genetic landscape of an unselected cohort of patients with microcephaly. METHODS: We performed clinical assessment, high-resolution chromosom...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Boonsawat, Paranchai, Joset, Pascal, Steindl, Katharina, Oneda, Beatrice, Gogoll, Laura, Azzarello-Burri, Silvia, Sheth, Frenny, Datar, Chaitanya, Verma, Ishwar C., Puri, Ratna Dua, Zollino, Marcella, Bachmann-Gagescu, Ruxandra, Niedrist, Dunja, Papik, Michael, Figueiro-Silva, Joana, Masood, Rahim, Zweier, Markus, Kraemer, Dennis, Lincoln, Sharyn, Rodan, Lance, Passemard, Sandrine, Drunat, Séverine, Verloes, Alain, Horn, Anselm H. C., Sticht, Heinrich, Steinfeld, Robert, Plecko, Barbara, Latal, Beatrice, Jenni, Oskar, Asadollahi, Reza, Rauch, Anita
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6752480/
https://ncbi.nlm.nih.gov/pubmed/30842647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0464-7
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