Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases

Med Clin (Barc). 2019 Oct 25;153(8):336-337. doi: 10.1016/j.medcli.2018.08.017. Epub 2018 Oct 30.

[Article in English, Spanish]

Authors

Pilar Caudevilla Lafuente¹, Silvia Izquierdo-Álvarez², José Ignacio Labarta Aizpún³

Affiliations

¹ Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España. Electronic address: pcaudevillalafuente@gmail.com.
² Sección de Genética Clínica, Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, España.
³ Unidad de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España.

PMID: 30389107
DOI: 10.1016/j.medcli.2018.08.017

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Collagen Type I / genetics*
Collagen Type I, alpha 1 Chain
Extracellular Matrix Proteins / genetics*
Female
Genetic Markers
Humans
Membrane Glycoproteins / genetics*
Molecular Chaperones / genetics*
Mutation*
Osteogenesis Imperfecta / diagnosis
Osteogenesis Imperfecta / genetics*
Prolyl Hydroxylases / genetics*
Proteoglycans / genetics*

Substances

CRTAP protein, human
Collagen Type I
Collagen Type I, alpha 1 Chain
Extracellular Matrix Proteins
Genetic Markers
Membrane Glycoproteins
Molecular Chaperones
Proteoglycans
Prolyl Hydroxylases
P3H1 protein, human