Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

We describe the detailed clinical and molecular characterization of three patients (aged 7, 8(4/12) and 31 years) with overlapping microdeletions in 19p13.12, extending to 19p13.13 in two cases. The patients share the following clinical features with a recently reported 10-year-old girl with a 19p13...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Bonaglia, Maria C, Marelli, Susan, Novara, Francesca, Commodaro, Simona, Borgatti, Renato, Minardo, Grazia, Memo, Luigi, Mangold, Elisabeth, Beri, Silvana, Zucca, Claudio, Brambilla, Daniele, Molteni, Massimo, Giorda, Roberto, Weber, Ruthild G, Zuffardi, Orsetta
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Nature Publishing Group 2010
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3002847/
https://ncbi.nlm.nih.gov/pubmed/20648052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.115
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια