Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 1 of 1 for “"CRLF1"”.
-
Molecular and genetic characterization, clinical evaluation and pilot study to assess the feasibility of a carrier screening for Crisponi syndrome in Sardinia
… recessive disorder caused by mutations in the CRLF1 gene with different degrees of severity. Anyway the debate about what term is more appropriate to indicate the syndrome is still open. During my project we expanded the mutational spectrum of CRLF1 in the syndrome and carried out a …