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Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.
Xiong Wang
Guijiao Zhang
Yanjun Lu
Xiaoping Luo
Wei Wu
Published in:
Molecular genetics & genomic medicine (2020)
Our findings expand the phenotypic and mutation spectra of WSS.
Keyphrases
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case report