A rare occurrence of haemophilia A in a female due to compound heterozygosity of a de novo missense variant (presenting as pseudohomozygous) in F8 gene with Xq28 deletion inherited from mother.
Ritika SharmaManu JamwalHari Kishan SeneeNarender KumarDeepak BansalAmita TrehanJasmina AhluwaliaReena DasPublished in: International journal of laboratory hematology (2022)