Discordant phenotype caused by CASK mutation in siblings with NF1
نویسندگان
چکیده
منابع مشابه
Orders of Magnitude Change in Phenotype Rate Caused by Mutation
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Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild ...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2019
ISSN: 2054-345X
DOI: 10.1038/s41439-019-0051-0