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

• Główni autorzy: Joshi Stephen (Autor), Sheela Nampoothiri (Autor), K. P. Vinayan (Autor), Dhanya Yesodharan (Autor), Preetha Remesh (Autor), William A. Gahl (Autor), May Christine V. Malicdan (Autor)
• Format: Książka
• Wydane: BMC, 2018-05-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Abstract Background Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, a...