Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

It has been well documented that variants in genes encoding centrosomal proteins cause primary autosomal recessive microcephaly, although the association between centrosomal defects and the etiology of microcephaly syndromes is not fully understood. Polo-like kinase 4 (PLK4) is one of the centrosoma...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Tsutsumi, Makiko, Yokoi, Setsuri, Miya, Fuyuki, Miyata, Masafumi, Kato, Mitsuhiro, Okamoto, Nobuhiko, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Saitoh, Shinji, Kurahashi, Hiroki
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2016
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117922/
https://ncbi.nlm.nih.gov/pubmed/27650967
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.119
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