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pro vyhledávání: '"Didier Griffiths"'
Autor:
Didier Lacombe, Jean-François Chateil, B Gilbert, Didier Griffiths, François Siberchicot, Sonia Federici
Publikováno v:
Clinical Dysmorphology. 13:81-83
We report a new case of oculo-ectodermal syndrome who developed giant cell granulomas of the jaw, similar to the patient previously described by Toriello et al. (1999). We review reported cases to better delineate the clinical spectrum of this rare c
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