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Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

Joshi StephenSheela NampoothiriK P VinayanDhanya YesodharanPreetha RemeshWilliam A GahlMay Christine V Malicdan
Published in: BMC medical genetics (2018)
Our study highlights the importance of homozygosity mapping and exome sequencing in molecular prenatal diagnosis, especially when multiple gene mutations are responsible for the phenotype.
Keyphrases
  • high resolution
  • single cell
  • single molecule
  • dna methylation