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

• Main Authors: Chamara Sampath Paththinige (Author), Nirmala Dushyanthi Sirisena (Author), Fabienne Escande (Author), Sylvie Manouvrier (Author), Florence Petit (Author), Vajira Harshadeva Weerabaddana Dissanayake (Author)
• Format: Book
• Published: BMC, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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-duplication or micro-triplication involving 17p13.3 region has been described...