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

• Autors principals: Chamara Sampath Paththinige (Autor), Nirmala Dushyanthi Sirisena (Autor), Fabienne Escande (Autor), Sylvie Manouvrier (Autor), Florence Petit (Autor), Vajira Harshadeva Weerabaddana Dissanayake (Autor)
• Format: Llibre
• Publicat: BMC, 2019-06-01T00:00:00Z.
• Matèries: article
• Accés en línia: 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...