Expanding the clinical spectrum of biallelic ZNF335 variants

ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in two unrelated families. We describe herein two additional affected individuals with biallelic ZNF335 variants, one individual with a...

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Veröffentlicht in:Clin Genet
Hauptverfasser: Stouffs, Katrien, Stergachis, Andrew B., Vanderhasselt, Tim, Dica, Alice, Janssens, Sandra, Vandervore, Laura, Gheldof, Alexander, Bodamer, Olaf, Keymolen, Kathelijn, Seneca, Sara, Liebaers, Inge, Jayaraman, Divya, Hill, Haley E., Partlow, Jennifer N., Walsh, Christopher A., Jansen, Anna C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6361164/
https://ncbi.nlm.nih.gov/pubmed/29652087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13260
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