Results 41 -
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43
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Multiple skeletal anomalies
- ... Unger S, Zankl A, Briggs MD. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of ... Sharan SK, Hecht JT. Model systems for studying skeletal dysplasias caused by TSP-5/COMP mutations. Cell ...
- ... S, Warman ML. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A. ... Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. ...
- ... facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.People ... type 1, Legius syndrome, and Noonan syndrome with multiple lentigines. Noonan syndrome occurs in approximately 1 in ...