Yazar "Finn, L. S." için listeleme
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D.; Parisi, M. A.; Finn, L. S.; Gunay-Aygun, M.; Al-Mateen, M.; Bates, D.; Glass, I. A. (B M J Publishing Group, 2010)Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), ...
