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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 Das
Published in: International journal of laboratory hematology (2022)
Keyphrases
  • risk assessment
  • intellectual disability
  • copy number
  • genome wide
  • genome wide identification
  • dna methylation
  • autism spectrum disorder
  • gene expression