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

Endocrinol Nutr. 2016 Aug-Sep;63(7):367-9. doi: 10.1016/j.endonu.2016.04.002. Epub 2016 May 10.

[Article in English, Spanish]

Authors

Isabel Pavón de Paz¹, Belén Gil Fournier², Cristina Navea Aguilera³, Sara Gómez Rodríguez³, María Soraya Ramiro León²

Affiliations

¹ Servicio de Endocrinología y Nutrición, Hospital Universitario de Getafe, Getafe, Madrid, España. Electronic address: pavonisa@yahoo.es.
² Servicio de Genética, Hospital Universitario de Getafe, Getafe, Madrid, España.
³ Servicio de Endocrinología y Nutrición, Hospital Universitario de Getafe, Getafe, Madrid, España.

PMID: 27178384
DOI: 10.1016/j.endonu.2016.04.002

No abstract available

Publication types

Case Reports

MeSH terms

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

Substances

Collagen Type I
Collagen Type I, alpha 1 Chain