Ooi, Bridget Wilcken, Jason Pinner Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. Michael M. Weinstein, Taekyu Kang, Ralph S. Lachman, Michael J. Bamshad, Deborah A. Nickerson, Deborah Krakow, Daniel H. Cohn SRD5A3-CDG: Expanding the phenotype of ...
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