SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.

Borozdin W., Boehm D., Leipoldt M., Wilhelm C., Reardon W., Clayton-Smith J., ...More

Journal of medical genetics, vol.41, no.9, 2004 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: 41 Issue: 9
• Publication Date: 2004
• Doi Number: 10.1136/jmg.2004.019901
• Journal Name: Journal of medical genetics
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Çanakkale Onsekiz Mart University Affiliated: No