Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

Cargo transport along the cytoplasmic microtubular network is essential for neuronal function, and cytoplasmic dynein-1 is an established molecular motor that is critical for neurogenesis and homeostasis. We performed whole-exome sequencing, homozygosity mapping, and chromosomal microarray studies i...

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發表在:Am J Hum Genet
Main Authors: Ansar, Muhammad, Ullah, Farid, Paracha, Sohail A., Adams, Darius J., Lai, Abbe, Pais, Lynn, Iwaszkiewicz, Justyna, Millan, Francisca, Sarwar, Muhammad T., Agha, Zehra, Shah, Sayyed Fahim, Qaisar, Azhar Ali, Falconnet, Emilie, Zoete, Vincent, Ranza, Emmanuelle, Makrythanasis, Periklis, Santoni, Federico A., Ahmed, Jawad, Katsanis, Nicholas, Walsh, Christopher, Davis, Erica E., Antonarakis, Stylianos E.
格式: Artigo
語言:Inglês
出版: Elsevier 2019
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6556908/
https://ncbi.nlm.nih.gov/pubmed/31079899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.04.002
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