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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Vydáno v:Am J Hum Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2019
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On-line přístup: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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