FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
June 2017
in “
Gene
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FOXN1 p.R255X mutation congenital alopecia nail dystrophy rudimentary thymus gland T-cell immunodeficiency genetic evaluation homozygous carriers immunological analysis T-cells prenatal diagnosis prenatal screening hair loss nail disorder thymus gland immune deficiency genetic testing genetic carriers immune cells prenatal testing
Studysummary This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
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