Ontology highlight
ABSTRACT:
SUBMITTER: Morgan NV
PROVIDER: S-EPMC1735497 | biostudies-other | 2003 Jun
REPOSITORIES: biostudies-other
Journal of medical genetics 20030601 6
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and one from southern Italy. In these families, as well as in a fifth consanguineous family from France, we ...[more]