title: Reproductive options in osteogenesis imperfecta. A two cases report in the same family with a new mutation in COL1A1.
authors.affiliation: Servicio de Endocrinología y Nutrición, Hospital Universitario de Getafe, Getafe, Madrid, España. Electronic address: pavonisa@yahoo.es.
authors.forename: Isabel
authors.initials: I
authors.lastname: Pavón de Paz
authors.affiliation: Servicio de Genética, Hospital Universitario de Getafe, Getafe, Madrid, España.
authors.forename: Belén
authors.initials: B
authors.lastname: Gil Fournier
authors.affiliation: Servicio de Endocrinología y Nutrición, Hospital Universitario de Getafe, Getafe, Madrid, España.
authors.forename: Cristina
authors.initials: C
authors.lastname: Navea Aguilera
authors.affiliation: Servicio de Endocrinología y Nutrición, Hospital Universitario de Getafe, Getafe, Madrid, España.
authors.forename: Sara
authors.initials: S
authors.lastname: Gómez Rodríguez
authors.affiliation: Servicio de Genética, Hospital Universitario de Getafe, Getafe, Madrid, España.
authors.forename: María Soraya
authors.initials: MS
authors.lastname: Ramiro León
mesh_terms: D019943:Amino Acid Substitution; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D027724:Reproductive Techniques, Assisted; D055815:Young Adult
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain