| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5589088 | European Journal of Medical Genetics | 2017 | 5 Pages |
Abstract
Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3Â Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.
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Authors
Paolo Fontana, Cristina Tortora, Roberta Petillo, Michela Malacarne, Simona Cavani, Martina Miniero, Paola D'Ambrosio, Davide De Brasi, Maria Antonietta Pisanti,