Sentence examples for a familial case from inspiring English sources

A familial case of chordoma (family 4, patient 1) previously reported to have T duplication [10], showed a T copy number of approximately 9.5±1.0.

Interestingly, the microdeletion is identical on the nucleotide level to a familial case reported by Prawitt et al. (12) (family 7 in this paper), including single nucleotide variants which are in phase with the deletion allele (Table  1).

To present a familial case of Swyer syndrome.

And I fear that what we have in America is a familial case of mission creep -- one in which our well-intended quest for ever-higher achievement has bred a nation of helicopter parents and a generation of children with plenty of love and precious few limits.

The tumor is usually sporadic and rarely occurs as a familial case or a component of a syndrome.

Moreover, a germline mutation in the human DAPK1 promoter leads to a familial case of Chronic Lymphocytic Leukemia CLL [6].

This variant was detected in the father of the Italian patient who represents a NTD familial case with an affected third-degree relative.

Recently, Chien et al. [ 40] had identified a p.R317X PAX6 mutation in a patient (familial case) suffering from cataract, aniridia, nystagmus and was developmentally delayed.

A few familial cases with linkage to 7q33 have been reported [9].

Around half of FTLD-TDP type A are familial cases, and as already mentioned earlier, are most often associated with progranulin mutations (which are always FTLD-TDP43 type A).

Homozygous nonsense and missense CFH mutations, causing either premature truncation of the protein or impaired protein secretion, respectively, have been reported in a few familial cases of autosomal recessive DDD or C3 glomerulonephritis and are associated with very low or undetectable CFH plasma levels.