Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

Autor: Pyott, Shawna M., Pepin, Melanie G., Schwarze, Ulrike, Yang, Kathleen, Smith, Gretchen, Byers, Peter H. *
Zdroj: In Genetics in Medicine February 2011 13(2):125-130
Databáze: ScienceDirect