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Mosaic Turner syndrome
- ... TN, Tosi LL, Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18;365( ...
- ... function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Citation on PubMed Elbauomy Elsheikh S, Green AR, Lambros MB, Turner NC, Grainge MJ, Powe D, Ellis IO, Reis- ...
- ... recognizable phenotype and first description of a male mosaic patient. Orphanet J ... RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw ...