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Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in . | LitMetric
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Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in .

Anja Lisbeth Frederiksen Morten Duno Iben B G Johnsen Morten Frost Nielsen Anne Bruun Krøigård

Clin Case Rep

Department of Clinical Genetics Odense University Hospital Odense Denmark; Department of Clinical Pathology Odense University Hospital Odense Denmark.

Published: October 2016

Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in 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.

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 Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054473PMC
http://dx.doi.org/10.1002/ccr3.658DOI Listing

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