9q22 Deletion - First Familial Case
<p>Abstract</p> <p>Background</p> <p>Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the <it&g...
Main Authors: | Yamamoto Toshiyuki, Shimojima Keiko, Miikkulainen Taina, Sipponen Marjatta, Peippo Maarit, Siggberg Linda, Ignatius Jaakko, Knuutila Sakari |
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Format: | Article |
Language: | English |
Published: |
BMC
2011-06-01
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Series: | Orphanet Journal of Rare Diseases |
Online Access: | http://www.ojrd.com/content/6/1/45 |
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