Patil, S.J. and Rai, G.K. and Bhat, V. and Ramesh, V.A. and Nagarajaram, H.A. and Matalia, J. and Phadke, S.R. (2014) Distal Arthrogryposis Type 5D With a Novel ECEL1 Gene Mutation. American Journal of Medical Genetics Part A, 164A (11). pp. 2857-2862. ISSN 1552-4833

Text Am J Med Genet 164A p2857 2014 Nov.pdf - Published Version Restricted to Repository staff only Download (1183Kb) | Request a copy

Abstract

Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. [1996]. Most of the DAs are inherited as autosomal dominant disorders. DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures, congenital hip dislocation, club foot, ptosis and other eye findings, furrowed tongue, and scoliosis. Here, we report on a family with clinical features of DA type 5D with novel mutations in the ECEL1 gene. (c) 2014 Wiley Periodicals, Inc.

Item Type:	Article
Uncontrolled Keywords:	distal arthrogryposis furrowed tongue knee extension contractures light pigmented fundus hip dislocation club foot scoliosis camptodactyly
Subjects:	Genetics
Depositing User:	Unnamed user with email alok@urdip.res.in
Date Deposited:	30 Mar 2015 11:37
Last Modified:	15 Dec 2015 10:34
URI:	http://cdfd.sciencecentral.in/id/eprint/5

Actions (login required)

View Item