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Autor:
Anne Dieux, Didier Griffiths, Juliane Leger, Béatrice Richard, Martine Lemerrer, Isabelle Bailleul-Forestier, Youssra Moussaid, Didier Lacombe
Publikováno v:
European journal of medical genetics. 55(8-9)
Kenny–Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42