Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

BACKGROUND: Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, and molecular features o...

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Detalles Bibliográficos
Autores principales: Sangsin, Apiruk, Srichomthong, Chalurmpon, Pongpanich, Monnat, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153895/
https://www.ncbi.nlm.nih.gov/pubmed/27955642
http://dx.doi.org/10.1186/s12881-016-0357-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153895/
https://www.ncbi.nlm.nih.gov/pubmed/27955642
http://dx.doi.org/10.1186/s12881-016-0357-4

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