Ontology highlight
ABSTRACT:
SUBMITTER: Lilly E
PROVIDER: S-EPMC6372339 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Lilly Evelyn E Bunick Christopher G CG Maley Alexander M AM Zhang Shali S Spraker Mary K MK Theos Amy J AJ Vivar Karina L KL Seminario-Vidal Lucia L Bennett Adam E AE Sidbury Robert R Ogawa Yasushi Y Akiyama Masashi M Binder Barbara B Hadj-Rabia Smail S Morotti Raffaella A RA Glusac Earl J EJ Choate Keith A KA Richard Gabriele G Milstone Leonard M LM
Journal of the American Academy of Dermatology 20181002 3
<h4>Background</h4>Infant death in keratitis-ichthyosis-deafness (KID) syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood.<h4>Objective</h4>We sought to discover characteristics that account for poor outcomes in lethal KID syndrome.<h4>Methods</h4>We collected 4 new cases and 9 previously reported, genotyped cases of lethal KID syndrome. We performed new molecular modeling of the lethal mutants GJB2 p.A88V and GJB2 p.G45E.<h4>Results</h ...[more]