Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

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Doherty D., Parisi M. A., Finn L. S., Gunay-Aygun M., Al-Mateen M., Bates D., ...More

JOURNAL OF MEDICAL GENETICS, vol.47, no.1, pp.8-21, 2010 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 47 Issue: 1
• Publication Date: 2010
• Doi Number: 10.1136/jmg.2009.067249
• Journal Name: JOURNAL OF MEDICAL GENETICS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.8-21
• Hacettepe University Affiliated: Yes

Abstract

Objective To identify genetic causes of COACH syndrome