Article
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Journal of medical genetics - 1 Aug 2009
Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena J C, Aslanger A D, Koseki H, Cohn D H, Superti-Furga A, Unger S, Ikegawa S
Abstract excerpt
BACKGROUND: Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.