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Renal anomalies in Alagille syndrome: A disease-defining feature

โœ Scribed by Binita M. Kamath; Gisele Podkameni; Anne L. Hutchinson; Laura D. Leonard; Jennifer Gerfen; Ian D. Krantz; David A. Piccoli; Nancy B. Spinner; Kathleen M. Loomes; Kevin Meyers


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
97 KB
Volume
158A
Category
Article
ISSN
1552-4825

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โœ Sofer, Shaul ;Bar-Ziv, Jacob ;Abeliovich, Dvorah ๐Ÿ“‚ Article ๐Ÿ“… 1983 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 413 KB ๐Ÿ‘ 2 views

We describe a father and his son with bilateral absence of radius and thumb. Both have short stature, external ear malformation, and renal anomaly. In the son a high frequency of chromosome breaks in lymphocytes was found. We compare this familial syndrome to Fanconi anemia and other radial ray apl