Ontology highlight
ABSTRACT:
SUBMITTER: Crisponi L
PROVIDER: S-EPMC1852730 | biostudies-literature | 2007 May
REPOSITORIES: biostudies-literature
Crisponi Laura L Crisponi Giangiorgio G Meloni Alessandra A Toliat Mohammad Reza MR Nurnberg Gudrun G Usala Gianluca G Uda Manuela M Masala Marco M Hohne Wolfgang W Becker Christian C Marongiu Mara M Chiappe Francesca F Kleta Robert R Rauch Anita A Wollnik Bernd B Strasser Friedrich F Reese Thomas T Jakobs Cornelis C Kurlemann Gerd G Cao Antonio A Nurnberg Peter P Rutsch Frank F
American journal of human genetics 20070330 5
Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed homozygosity mapping in five Sardinian and three Turkish families with Crisponi syndrome, using high-density single-nucleotide polymorphism arrays, and identified a critical region on chromosome 19p12-13.1. The m ...[more]