The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.

Clin Dysmorphol

aSchool of Biological Sciences, University of the Punjab, Lahore, Pakistan bChildren's Hospital, Helsinki University Hospital, University of Helsinki cFolkhälsan Institute of Genetics, Helsinki, Finland.

Published: April 2017

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Source
http://dx.doi.org/10.1097/MCD.0000000000000155DOI Listing

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