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Paracellin-1 gene mutation with multiple congenital abnormalities

✍ Scribed by Mehmet Türkmen; Belde Kasap; Alper Soylu; Ece Böber; Martin Konrad; Salih Kavukçu

Book ID
106160409
Publisher
Springer
Year
2006
Tongue
English
Weight
81 KB
Volume
21
Category
Article
ISSN
0931-041X

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Variable hand and foot abnormalities in
Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation
✍ Matthew B. Dobbs; Christina A. Gurnett; Jason Robarge; J. Eric Gordon; Jose A. M 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 515 KB

Isolated foot anomalies, including congenital vertical talus, were shown recently to occur in heterozygous carriers of CDMP-1 (cartilage-derived morphogenetic protein-1) gene mutations. Six families with isolated congenital vertical talus with apparent autosomal dominant inheritance were ascertained