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 MalicdanPublished 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.