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A large deletion in the CFTR gene in CBAVD.
Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM. Hantash FM, et al. Genet Med. 2006 Feb;8(2):93-5. doi: 10.1097/01.gim.0000200945.54234.d7. Genet Med. 2006. PMID: 16481891 Free article.
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
Hantash FM, Goos DM, Crossley B, Anderson B, Zhang K, Sun W, Strom CM. Hantash FM, et al. Genet Med. 2011 Jan;13(1):39-45. doi: 10.1097/GIM.0b013e3181fa9fad. Genet Med. 2011. PMID: 21116185 Free article.
29 results