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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Genet
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2018
Pynciau:
Article
Mynediad Ar-lein: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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