Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature

Split hand/foot malformation (SHFM) is a group of congenital skeletal disorders which may occur either as an isolated abnormality or in syndromic forms with extra-limb manifestations. Chromosomal micro-duplica...

Source: BMC Medical Genetics - June 14, 2019 Category: Genetics & Stem Cells Authors: Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit and Vajira Harshadeva Weerabaddana Dissanayake Tags: Case report Source Type: research