Phenotypic Expansion of KMT2D-Related Disorder: Beyond Kabuki Syndrome

Pathogenic variants in KMT2D, which encodes lysine specific methyltransferase 2D, cause autosomal dominant Kabuki syndrome, associated with distinctive dysmorphic features including arched eyebrows, long palpebral fissures with eversion of the lower lid, large protuberant ears, and fetal finger pads...

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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: Baldridge, Dustin, Spillmann, Rebecca C., Wegner, Daniel J., Wambach, Jennifer A., White, Frances V., Sisco, Kathleen, Toler, Tomi L., Dickson, Patricia I., Cole, F. Sessions, Shashi, Vandana, Grange, Dorothy K.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7295006/
https://ncbi.nlm.nih.gov/pubmed/32083401
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61518
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