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Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.
Am J Med Genet A. 2010 May;152A(5):1169-77. doi: 10.1002/ajmg.a.33392.
Am J Med Genet A. 2010.
PMID: 20425821
Free PMC article.
Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.
Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH.
Weinstein MM, et al.
Am J Med Genet A. 2016 Dec;170(12):3298-3302. doi: 10.1002/ajmg.a.37942. Epub 2016 Aug 17.
Am J Med Genet A. 2016.
PMID: 27530454
Free PMC article.
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