Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2

Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Clin Case Rep
Egile Nagusiak: Frederiksen, Anja Lisbeth, Duno, Morten, Johnsen, Iben B. G., Nielsen, Morten Frost, Krøigård, Anne Bruun
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2016
Gaiak:
Case Reports
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5054473/
https://ncbi.nlm.nih.gov/pubmed/27761249
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.658
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak