Abstract
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 in asymptomatic parents as verified mosaicism highly increases recurrence risk.
Originalsprog | Engelsk |
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Tidsskrift | AACE clinical case reports |
Vol/bind | 4 |
Udgave nummer | 10 |
Sider (fra-til) | 972-978 |
Antal sider | 7 |
DOI | |
Status | Udgivet - okt. 2016 |