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

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

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...

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Bibliographic Details
Main Authors: Chamara Sampath Paththinige, Nirmala Dushyanthi Sirisena, Fabienne Escande, Sylvie Manouvrier, Florence Petit, Vajira Harshadeva Weerabaddana Dissanayake
Format: Article
Language:English
Published: BMC 2019-06-01
Series:BMC Medical Genetics
Subjects:
Ectrodactyly
Split hand/foot malformation
Split hand/foot malformation with long bone deficiency
17p13.3 duplication
BHLHA9
Online Access:http://link.springer.com/article/10.1186/s12881-019-0839-2

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http://link.springer.com/article/10.1186/s12881-019-0839-2

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