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

Stephen, J; Nampoothiri, S; Vinayan, KP; Yesodharan, D; Remesh, P; Gahl, WA; Malicdan, MCV

Malicdan, MCV (reprint author), NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA.; Malicdan, MCV (reprint author), NHGRI, NIH, Undiagnosed Dis Program, 10C-103 10 Ctr Dr, Bethesda, MD 20892 USA.; Malicdan, MCV (reprint author

BMC MEDICAL GENETICS, 2018; 19 ():

Abstract

Background: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of mul......

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