| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5904979 | European Journal of Medical Genetics | 2012 | 4 Pages |
Abstract
⺠ASPED is characterized by brachydactyly and angel-shaped phalanges. ⺠Mutations in CDMP1 produce a wide spectrum of skeletal dysplasias. âºÂ ASPED and BDC are caused by mutations in the CDMP1 gene. ⺠BDC is shortening of short middle phalanges of the second, third and fifth fingers.
Keywords
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Genetics
Authors
Bianca Ethel Gutiérrez-Amavizca, Aniel Jessica Leticia Brambila-Tapia, Clara Ibet Juárez-Vázquez, Muriel Holder-Espinasse, Sylvie Manouvrier-Hanu, Fabienne Escande, Patricio Barros-Núñez,