Reproductive options in osteogenesis imperfecta. A two cases report in the same family with a new mutation in COL1A1.

Subjects

Subjects :

Amino Acid Substitution
Collagen Type I, alpha 1 Chain
Female
Genes, Dominant
Genetic Counseling
Humans
Infant, Newborn
Male
Middle Aged
Pedigree
Young Adult
Collagen Type I genetics
Mutation, Missense
Osteogenesis Imperfecta genetics
Point Mutation
Reproductive Techniques, Assisted

Details

Language :

English; Spanish; Castilian

ISSN :

1579-2021

Volume :

63

Issue :

7

Database :

MEDLINE

Journal :

Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion

Publication Type :

Academic Journal

Accession number :

27178384

Full Text :

https://doi.org/10.1016/j.endonu.2016.04.002