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Pseudoachondroplasia: A rare cause of rhizomelic dwarfism
Pseudoachondroplasia is a rare rhizomelic short-limbed skeletal dysplasia. Its inheritance is varied; autosomal dominant pattern and germline or somatic mutations can occur. Children at 2–3 years of age present with short height, gait disturbances, or limb deformities. Characteristic skeletal change...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications
2008
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740353/ https://www.ncbi.nlm.nih.gov/pubmed/19753240 http://dx.doi.org/10.4103/0019-5413.43400 |