Abstract
In 1982, Maroteaux et al. proposed the term “atelosteogenesis” for a newborn skeletal dysplasia characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine, and other skeletal elements (Maroteaux et al. 1982). Atelosteogenesis encompasses a heterogeneous group of disorders with overlapping phenotypic features.
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Chen, H. (2017). Atelosteogenesis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_19
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DOI: https://doi.org/10.1007/978-1-4939-2401-1_19
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