Identification of the Gene for Oral-Facial-Digital Type I Syndrome

Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males and is characterized by malformations of the face, oral cavity, and digits, and by a highly variable expressivity even within the same family. Malformation of the brain an...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Ferrante, Maria I., Giorgio, Giovanna, Feather, Sally A., Bulfone, Alessandro, Wright, Victoria, Ghiani, Michela, Selicorni, Angelo, Gammaro, Linda, Scolari, Francesco, Woolf, Adrian S., Sylvie, Odent, Bernard, Le Marec, Malcolm, Sue, Winter, Robin, Ballabio, Andrea, Franco, Brunella
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: The American Society of Human Genetics 2001
Θέματα:
Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274470/
https://ncbi.nlm.nih.gov/pubmed/11179005
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