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“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias

✍ Scribed by Valérie Cormier-Daire; Ravi Savarirayan; Sheila Unger; David L. Rimoin; Ralph S. Lachman


Book ID
105942415
Publisher
Springer-Verlag
Year
2001
Tongue
English
Weight
91 KB
Volume
31
Category
Article
ISSN
0301-0449

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We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina