Article
A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.
The British journal of dermatology - 1 Sept 2008
Sander C S, Salman N, van Geel M, Broers J L V, Al-Rahmani A, Chedid F, Hausser I, Oji V, Al Nuaimi K, Berger T G, Verstraeten V L R M
Abstract excerpt
Restrictive dermopathy (RD) is a severe neonatal inherited skin syndrome of which children die shortly after birth. Clinical features include intrauterine growth retardation, taut translucent and easily eroded skin, multiple joint ankylosis and distinct facial features. RD is usually caused by homozygous or compound heterozygous mutations in ZMPSTE24, predicted to cause loss of function of the encoded zinc...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.