Ontology highlight
ABSTRACT:
SUBMITTER: Lubianca Neto JF
PROVIDER: S-EPMC1377094 | biostudies-literature | 1998 May
REPOSITORIES: biostudies-literature
American journal of human genetics 19980501 5
We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large kindred with Bjornstad syndrome in which eight members inherited pili torti and prelingual sensorineural hearing loss as autosomal recessive traits. A genomewide search using polymorphic loci demonstrated linkage be ...[more]