The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
作者信息
Iqbal Muddassar, Muhammad Niaz, Ali Sheikh A, Kostjukovits Svetlana, Mäkitie Outi, Naz Sadaf
机构信息
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.
出版信息
Clin Dysmorphol. 2017 Apr;26(2):121-123. doi: 10.1097/MCD.0000000000000155.
PMID:27740950
Abstract
摘要
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