Article
Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2023
Radic Claudia P, Abelleyro Miguel M, Ziegler Betiana, Marchione Vanina D, Nevado Julián, Lapunzina Pablo, Sciuccati Gabriela, Neme Daniela, Rossetti Liliana C, Bonduel Mariana, De Brasi Carlos D
Abstract excerpt
INTRODUCTION: Haemophilia B (HB) is associated with pathogenic variants in F9. Hemizygous deletions encompassing the entire F9 and proximate genes may express extra-haematological clinical phenotypes. AIM: To analyse the genotype/phenotype correlations in two unrelated boys with severe early childhood obesity (SCO), global developmental delay (GDD) and similar bleeding phenotype associated with comparable Xq27...
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