Articles on autosomal dominant inheritence

MEHMET EMRE ATABEK, KÜRŞAD AYDIN, BÜLENT ORAN, İBRAHIM ERKUL

1999, Vol 15, Issue 3, Page 167-169

Achondroplasia, a congenital skeletal disorder, is inherited in an autosomal dominant fashion, but approximately 75 % of cases have new dominant mutations. The characteristic clinical findings are short extremities with majör shortening proximally, depressed nasal bridge, large head, bulging...