Ontology highlight
ABSTRACT:
SUBMITTER: Basel-Vanagaite L
PROVIDER: S-EPMC2725231 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Basel-Vanagaite Lina L Sarig Ofer O Hershkovitz Dov D Fuchs-Telem Dana D Rapaport Debora D Gat Andrea A Isman Gila G Shirazi Idit I Shohat Mordechai M Enk Claes D CD Birk Efrat E Kohlhase Jürgen J Matysiak-Scholze Uta U Maya Idit I Knopf Carlos C Peffekoven Anette A Hennies Hans-Christian HC Bergman Reuven R Horowitz Mia M Ishida-Yamamoto Akemi A Sprecher Eli E
American journal of human genetics 20090723 2
Inherited disorders of elastic tissue represent a complex and heterogeneous group of diseases, characterized often by sagging skin and occasionally by life-threatening visceral complications. In the present study, we report on an autosomal-recessive disorder that we have termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis). The disorder was mapped to chromosome 20p11.21-p11.23, and a homozygous frameshift mutation in RIN2 was found to segregate with the disease phenotype in a ...[more]